CSF3R (Q99062) variants and mutations
CSF3R (also known as Q99062) is a human protein-coding gene encoding a granulocyte colony-stimulating factor receptor protein. It transmits G-CSF signals that promote neutrophil precursor proliferation, differentiation, and survival. Activating or truncating somatic variants are major drivers of chronic neutrophilic leukemia, while loss-of-function variants can cause severe congenital neutropenia. This analysis covers 1,611 CSF3R variants and mutations. Of these, 68% have computational variant effect predictions. Disease context includes autosomal recessive severe congenital neutropenia due to CSF3R deficiency, myelodysplastic syndrome, and neoplasm. Example CSF3R variants include M1?, A2T, and A2V.
Variant analysis overview
- Gene: CSF3R
- Protein: Q99062
- UniProt accession: Q99062
- Organism: Homo sapiens
- Variants analyzed: 1611
- Variant scope: all variants
- Completed: 2026-08-18
Variant and mutation evidence
- Variant composition: 1,302 unspecified-consequence records; 154 missense variants; 119 synonymous variants; 14 frameshift variants; 5 stop-gained variants; 1 stop retained variant; 4 in-frame deletions; 4 splice-region variants; 8 substitution
- Prediction scores: 1,097 variants have prediction scores (68% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: autosomal recessive severe congenital neutropenia due to CSF3R deficiency, myelodysplastic syndrome, neoplasm, hereditary neutrophilia, neutropenia, cancer, severe congenital neutropenia, aplastic anemia, acute myeloid leukemia, infection, chronic myelogenous leukemia, BCR-ABL1 positive, acute lymphoblastic leukemia.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 6 domains; 8 post-translational modification sites.
- Structural context: 1,031 variants have structural context.
- PTM context: 13 variants overlap post-translational modification sites.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable CSF3R variants
Examples include M1?, A2T, A2V, R3S, L4P, L4V, G5A, G5E. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- M1?, cosmic curated COSV58964
- A2T (p.Ala2Thr), cosmic curated COSV58964
- A2V (p.Ala2Val), gnomAD rs1440439440, REVEL 0.05, CADD 6.01
- R3S (p.Arg3Ser), 1000Genomes rs540840798, REVEL 0.15, CADD 9.18
- L4P (p.Leu4Pro), Ensembl rs1651385246
- L4V (p.Leu4Val), Ensembl rs1557600919, REVEL 0.11, CADD 22.60
- G5A (p.Gly5Ala), rs528738573, ClinGen CA769602, ClinVar RCV002786037, 1000Genomes rs528738573, REVEL 0.13, CADD 5.13, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- G5E (p.Gly5Glu), cosmic curated COSV10523, 1000Genomes rs528738573, ExAC rs528738573, TOPMed rs528738573, REVEL 0.19, CADD 7.73, Uncertain significance
- G5R (p.Gly5Arg), cosmic curated COSV10523
- N6T (p.Asn6Thr), Ensembl rs2124152715
- L9R (p.Leu9Arg), rs778978620, ClinGen CA20754776, ClinVar RCV004370335, Ensembl rs778978620, AlphaMissense 0.10, MetaLR 0.37, Uncertain significance, Inborn genetic diseases
- T10I (p.Thr10Ile), rs1186251774, ClinGen CA339425352, ClinVar RCV003756226, TOPMed rs1186251774, REVEL 0.04, CADD 3.72, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- T10S (p.Thr10Ser), TOPMed rs1651384439
- W11* (p.Trp11Ter), rs2124152665, ClinGen CA339425348, ClinVar RCV001382169, Ensembl rs2124152665, CADD 24.40, Pathogenic
- W11L (p.Trp11Leu), cosmic curated COSV10011
- A13G (p.Ala13Gly), cosmic curated COSV10011
- A13V (p.Ala13Val), cosmic curated COSV58973, ExAC rs760103886, TOPMed rs760103886, gnomAD rs760103886, REVEL 0.12, CADD 15.10
- L14V (p.Leu14Val), rs752051152, ClinGen CA769600, cosmic curated COSV58963, ClinVar RCV001817504, REVEL 0.09, CADD 19.30, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; not s
- L18Q (p.Leu18Gln), ExAC rs762994036, gnomAD rs762994036, REVEL 0.26, CADD 25.60
- L19I (p.Leu19Ile), cosmic curated COSV58971
- P20L (p.Pro20Leu), cosmic curated COSV58965, REVEL 0.15, CADD 23.60
- P20S (p.Pro20Ser), gnomAD rs1209715918, REVEL 0.12, CADD 15.40
- P20T (p.Pro20Thr), cosmic curated COSV58964
- G21A (p.Gly21Ala), rs2124152542, ClinGen CA339425289, ClinVar RCV001876956, Ensembl rs2124152542, AlphaMissense 0.09, MetaLR 0.07, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- G21E (p.Gly21Glu), cosmic curated COSV58971
- G21R (p.Gly21Arg), rs200059719, ClinGen CA769596, cosmic curated COSV58965, ClinVar RCV001314783, REVEL 0.09, CADD 0.02, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- S22N (p.Ser22Asn), cosmic curated COSV58971, REVEL 0.22, CADD 27.90
- E24D (p.Glu24Asp), cosmic curated COSV10011
- E24K (p.Glu24Lys), Ensembl rs867425152, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- C26* (p.Cys26Ter), rs767458386, ClinGen CA339425239, ClinVar RCV001933386, ExAC rs767458386, CADD 25.50, Pathogenic
- C26R (p.Cys26Arg), ExAC rs776693811, TOPMed rs776693811, gnomAD rs776693811, REVEL 0.72, CADD 24.50
- C26W (p.Cys26Trp), ExAC rs767458386, TOPMed rs767458386, gnomAD rs767458386, REVEL 0.59, CADD 13.10, Pathogenic
- G27A (p.Gly27Ala), gnomAD rs1428477464, REVEL 0.38, CADD 19.10
- G27R (p.Gly27Arg), rs759364352, ExAC rs759364352, gnomAD rs759364352, ClinGen CA769574, REVEL 0.48, CADD 24.40, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- S30N (p.Ser30Asn), cosmic curated COSV58964, gnomAD rs1169858333
- A33D (p.Ala33Asp), rs772847527, ClinGen CA769570, ClinVar RCV002944121, ClinVar RCV003269366, REVEL 0.35, CADD 13.40, Uncertain significance, Inborn genetic diseases; Autosomal recessive severe congenital neutropenia due t
- P34L (p.Pro34Leu), rs34362628, ClinGen CA769569, cosmic curated COSV10942, ClinVar RCV000687030, REVEL 0.23, CADD 15.40, Uncertain significance, not provided; Autosomal recessive severe congenital neutropenia due to CSF3R def
- P34S (p.Pro34Ser), cosmic curated COSV10464, cosmic curated COSV10011
- I35F (p.Ile35Phe), ExAC rs755370892, TOPMed rs755370892, gnomAD rs755370892, REVEL 0.33, CADD 13.80, Uncertain significance
- I35L (p.Ile35Leu), ExAC rs755370892, TOPMed rs755370892, gnomAD rs755370892, REVEL 0.12, CADD 13.10, Uncertain significance
- I35V (p.Ile35Val), rs755370892, ClinGen CA769566, ClinVar RCV000768196, ClinVar RCV003224438, REVEL 0.05, CADD 0.66, Uncertain significance, Hereditary neutrophilia; Autosomal recessive severe congenital neutropenia due t
- V36I (p.Val36Ile), rs369635490, ClinGen CA769563, ClinVar RCV001224664, ESP rs369635490, REVEL 0.36, CADD 9.24, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- G39E (p.Gly39Glu), cosmic curated COSV58965
- G39R (p.Gly39Arg), gnomAD rs1651090445, REVEL 0.71, CADD 25.60
- D40N (p.Asp40Asn), ExAC rs754120929, gnomAD rs754120929, REVEL 0.26, CADD 17.60
- I42F (p.Ile42Phe), rs2521831006, ClinGen CA339425144, ClinVar RCV002762817, Uncertain significance, Inborn genetic diseases
- T43P (p.Thr43Pro), Ensembl rs1570595631
- A44T (p.Ala44Thr), Ensembl rs745472605, REVEL 0.64, CADD 25.40
- C46F (p.Cys46Phe), gnomAD rs1370699677, REVEL 0.89, CADD 25.60, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- C46R (p.Cys46Arg), TOPMed rs1408834439, gnomAD rs1408834439, REVEL 0.92, CADD 27.10
- I47L (p.Ile47Leu), cosmic curated COSV58970
- I48N (p.Ile48Asn), cosmic curated COSV58973
- I48V (p.Ile48Val), rs1047054210, ClinGen CA20752034, ClinVar RCV001960104, ClinVar RCV004042094, REVEL 0.16, CADD 15.30, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; Inbor
- K49R (p.Lys49Arg), rs766274573, ClinGen CA769555, ClinVar RCV001995507, ExAC rs766274573, REVEL 0.20, CADD 0.39, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- Q50H (p.Gln50His), cosmic curated COSV58970, cosmic curated COSV10464
- N51K (p.Asn51Lys), rs1557597591, ClinGen CA339425080, ClinVar RCV003592466, REVEL 0.11, CADD 7.20, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- C52G (p.Cys52Gly), cosmic curated COSV58974, REVEL 0.66, CADD 24.80
- S53G (p.Ser53Gly), gnomAD rs1651086485, REVEL 0.29, CADD 17.30
- S53I (p.Ser53Ile), TOPMed rs1651086290
- H54D (p.His54Asp), rs371768579, ClinGen CA769553, cosmic curated COSV10942, ClinVar RCV000814150, REVEL 0.17, CADD 8.38, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- H54Q (p.His54Gln), ExAC rs747575947, gnomAD rs747575947, REVEL 0.13, CADD 10.10
- H54R (p.His54Arg), ESP rs139917461, TOPMed rs139917461, gnomAD rs139917461, REVEL 0.18, CADD 6.29
- H54Y (p.His54Tyr), rs371768579, ClinGen CA769552, ClinVar RCV000685186, ClinVar RCV002531435, REVEL 0.28, CADD 2.26, Uncertain significance, Inborn genetic diseases; not provided; Autosomal recessive severe congenital neu
- L55Q (p.Leu55Gln), cosmic curated COSV58972
- L55R (p.Leu55Arg), Ensembl rs1570595502
- L55V (p.Leu55Val), rs1651085213, ClinGen CA339425058, ClinVar RCV001229002, TOPMed rs1651085213, REVEL 0.16, CADD 8.01, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- D56A (p.Asp56Ala), Ensembl rs1570595476
- D56G (p.Asp56Gly), cosmic curated COSV58972
- D56N (p.Asp56Asn), 1000Genomes rs199552713, ExAC rs199552713, TOPMed rs199552713, gnomAD rs199552713, REVEL 0.12, CADD 14.50, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- P57L (p.Pro57Leu), rs746657668, ClinGen CA769548, ClinVar RCV001893584, ClinVar RCV005552494, REVEL 0.23, CADD 0.67, Conflicting interpretations, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; Inbor
- P57R (p.Pro57Arg), ExAC rs746657668, TOPMed rs746657668, gnomAD rs746657668, Uncertain significance
- E58K (p.Glu58Lys), cosmic curated COSV10739
- I61N (p.Ile61Asn), cosmic curated COSV10964
- L62M (p.Leu62Met), cosmic curated COSV58971, ESP rs145623142, ExAC rs145623142
- L62Q (p.Leu62Gln), cosmic curated COSV58969
- W63* (p.Trp63Ter), rs1286213872, ClinGen CA339425001, ClinVar RCV003147658, ClinVar RCV005057612, CADD 36.00, Pathogenic
- R64I (p.Arg64Ile), ExAC rs746426204, gnomAD rs746426204, REVEL 0.32, CADD 19.40
- R64K (p.Arg64Lys), cosmic curated COSV10811
- R64S (p.Arg64Ser), Ensembl rs1570595356
- L65V (p.Leu65Val), ExAC rs757380490, TOPMed rs757380490, gnomAD rs757380490, REVEL 0.15, CADD 11.20
- G66R (p.Gly66Arg), Ensembl rs2124136876
- A67T (p.Ala67Thr), ExAC rs756473038, gnomAD rs756473038, REVEL 0.25, CADD 0.10
- A67V (p.Ala67Val), Ensembl rs2124136844
- E68D (p.Glu68Asp), TOPMed rs1651080055, Likely benign
- E68G (p.Glu68Gly), rs2124136821, ClinGen CA339424974, ClinVar RCV001931340, Ensembl rs2124136821, AlphaMissense 0.10, MetaLR 0.42, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- L69F (p.Leu69Phe), TOPMed rs1415537596, gnomAD rs1415537596, REVEL 0.13, CADD 4.11
- P71S (p.Pro71Ser), Ensembl rs2124136786, REVEL 0.30, CADD 17.60
- G72A (p.Gly72Ala), Ensembl rs2124136751
- G72R (p.Gly72Arg), rs375879178, ClinGen CA769538, cosmic curated COSV58965, ClinVar RCV001054549, REVEL 0.11, CADD 11.10, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- G72W (p.Gly72Trp), rs375879178, ClinGen CA339424949, ClinVar RCV001925478, ESP rs375879178, REVEL 0.34, CADD 22.00, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- G73C (p.Gly73Cys), 1000Genomes rs532250805, ExAC rs532250805, TOPMed rs532250805, gnomAD rs532250805, REVEL 0.27, CADD 21.80, Uncertain significance
- G73D (p.Gly73Asp), cosmic curated COSV58969, Ensembl rs1651077770
- G73R (p.Gly73Arg), 1000Genomes rs532250805, ExAC rs532250805, TOPMed rs532250805, gnomAD rs532250805, REVEL 0.29, CADD 16.90, Uncertain significance
- G73S (p.Gly73Ser), rs532250805, ClinGen CA769536, cosmic curated COSV58968, ClinVar RCV003592671, REVEL 0.17, CADD 11.10, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; not p
- Q75* (p.Gln75Ter), cosmic curated COSV58968, ExAC rs765040045, gnomAD rs765040045, CADD 36.00
- Q75H (p.Gln75His), Ensembl rs2124136639
- Q76* (p.Gln76Ter), cosmic curated COSV10011
- Q76K (p.Gln76Lys), TOPMed rs1188234060, gnomAD rs1188234060, REVEL 0.17, CADD 10.10
- R77C (p.Arg77Cys), rs2124136605, ClinGen CA339424919, ClinVar RCV001907418, Ensembl rs2124136605, REVEL 0.27, CADD 21.70, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- R77H (p.Arg77His), rs761404285, ClinGen CA769532, cosmic curated COSV58968, ClinVar RCV001981949, REVEL 0.11, CADD 3.46, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; Inbor
- L78V (p.Leu78Val), Ensembl rs2124136567
- S79C (p.Ser79Cys), cosmic curated COSV10964
- S79F (p.Ser79Phe), cosmic curated COSV58971
- S79P (p.Ser79Pro), rs2521828212, ClinGen CA339424909, ClinVar RCV002731369, REVEL 0.20, CADD 8.35, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- D80N (p.Asp80Asn), TOPMed rs1207837094, gnomAD rs1207837094, REVEL 0.22, AlphaMissense 0.15, Uncertain significance
- D80Y (p.Asp80Tyr), rs1207837094, ClinGen CA339424901, cosmic curated COSV10883, ClinVar RCV001037744, AlphaMissense 0.15, MetaLR 0.75, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- G81E (p.Gly81Glu), cosmic curated COSV58973
- G81R (p.Gly81Arg), cosmic curated COSV58964
- T82I (p.Thr82Ile), ExAC rs760367363, gnomAD rs760367363, REVEL 0.27, CADD 9.43
- Q83K (p.Gln83Lys), cosmic curated COSV10011, REVEL 0.19, CADD 19.30
- E84A (p.Glu84Ala), rs565088221, ClinGen CA769528, ClinVar RCV002012274, ClinVar RCV003481212, REVEL 0.24, CADD 10.90, Uncertain significance, Inborn genetic diseases; Autosomal recessive severe congenital neutropenia due t
- E84K (p.Glu84Lys), cosmic curated COSV10011
- E84Q (p.Glu84Gln), Ensembl rs2124136504
- T88I (p.Thr88Ile), rs772516569, ClinGen CA339424845, ClinVar RCV003053297, ExAC rs772516569, REVEL 0.54, CADD 25.50, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- T88N (p.Thr88Asn), rs772516569, ClinGen CA769527, ClinVar RCV003755061, ExAC rs772516569, REVEL 0.44, CADD 24.90, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; Inbor
- T88P (p.Thr88Pro), gnomAD rs1226117399
- P90H (p.Pro90His), Ensembl rs1651073475, REVEL 0.54, CADD 26.10
- P90L (p.Pro90Leu), Ensembl rs1651073475
- P90S (p.Pro90Ser), cosmic curated COSV58967, Ensembl rs2124136418, REVEL 0.45, CADD 23.90, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- H91P (p.His91Pro), cosmic curated COSV58967, 1000Genomes rs148307285, ESP rs148307285, ExAC rs148307285, Uncertain significance
- H91R (p.His91Arg), rs148307285, ClinGen CA769524, ClinVar RCV000499844, ClinVar RCV000798833, REVEL 0.18, CADD 8.15, Conflicting interpretations, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; Inbor
- H91Y (p.His91Tyr), ExAC rs779487638, gnomAD rs779487638
- L92F (p.Leu92Phe), rs1434762753, ClinGen CA339424825, ClinVar RCV003592860, TOPMed rs1434762753, REVEL 0.15, CADD 1.69, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- L92H (p.Leu92His), Ensembl rs2124136332
- L92V (p.Leu92Val), rs1434762753, ClinGen CA339424826, ClinVar RCV002014677, ClinVar RCV002563580, REVEL 0.25, CADD 2.78, Uncertain significance, Inborn genetic diseases; Autosomal recessive severe congenital neutropenia due t
- N93H (p.Asn93His), Ensembl rs1557597264
- N93I (p.Asn93Ile), Ensembl rs2124136315
- H94D (p.His94Asp), ESP rs368901950, ExAC rs368901950, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- H94Q (p.His94Gln), cosmic curated COSV58973
- H94R (p.His94Arg), ESP rs374695394, ExAC rs374695394, TOPMed rs374695394, gnomAD rs374695394, REVEL 0.17, CADD 4.01, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- T95I (p.Thr95Ile), Ensembl rs1651071292, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- Q96H (p.Gln96His), cosmic curated COSV58973
- Q96R (p.Gln96Arg), cosmic curated COSV58967, Ensembl rs2124136234
- A97D (p.Ala97Asp), cosmic curated COSV58968
- A97S (p.Ala97Ser), cosmic curated COSV10811, REVEL 0.33, CADD 23.60
- A97V (p.Ala97Val), cosmic curated COSV10645
- F98C (p.Phe98Cys), Ensembl rs1651070843
- L99H (p.Leu99His), cosmic curated COSV10589
- C101R (p.Cys101Arg), cosmic curated COSV10464
- C101Y (p.Cys101Tyr), gnomAD rs1163880913, REVEL 0.74, CADD 25.60
- C102R (p.Cys102Arg), ESP rs372702415, ExAC rs372702415, TOPMed rs372702415, gnomAD rs372702415, REVEL 0.61, CADD 23.20, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- C102Y (p.Cys102Tyr), Ensembl rs2124136162
- N104K (p.Asn104Lys), rs750132507, ClinGen CA769517, ClinVar RCV001347015, ExAC rs750132507, REVEL 0.19, CADD 5.03, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- W105C (p.Trp105Cys), gnomAD rs1417203649, REVEL 0.56, CADD 26.40
- W105L (p.Trp105Leu), ExAC rs761711277, gnomAD rs761711277, REVEL 0.48, CADD 23.30
- W105R (p.Trp105Arg), ExAC rs765071534, TOPMed rs765071534, gnomAD rs765071534, REVEL 0.62, CADD 24.40
- G106D (p.Gly106Asp), Ensembl rs2124136099
- N107I (p.Asn107Ile), Ensembl rs78901962
- N107T (p.Asn107Thr), Ensembl rs78901962
- S108G (p.Ser108Gly), rs149231790, ClinGen CA769514, ClinVar RCV001352541, ClinVar RCV003355423, REVEL 0.15, CADD 19.80, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; Inbor
- S108N (p.Ser108Asn), cosmic curated COSV10011
- L109M (p.Leu109Met), rs147091245, ClinGen CA769513, ClinVar RCV001307282, ESP rs147091245, REVEL 0.22, CADD 14.70, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- L109P (p.Leu109Pro), rs1290014200, ClinGen CA339424709, ClinVar RCV001819394, ClinVar RCV003772300, REVEL 0.11, CADD 18.90, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency; not s
- Q110* (p.Gln110Ter), Ensembl rs2124135959
- Q110H (p.Gln110His), Ensembl rs2124135944
- Q114* (p.Gln114Ter), rs756667927, ClinGen CA20751668, ClinVar RCV001003788, ClinVar RCV001225134, CADD 41.00, Pathogenic
- Q114P (p.Gln114Pro), gnomAD rs1651066809, REVEL 0.55, CADD 20.50
- V115A (p.Val115Ala), 1000Genomes rs139022075, ExAC rs139022075, TOPMed rs139022075, gnomAD rs139022075, REVEL 0.28, AlphaMissense 0.05, Likely benign, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- V115G (p.Val115Gly), rs139022075, ClinGen CA339424647, ClinVar RCV001983726, 1000Genomes rs139022075, AlphaMissense 0.05, MetaLR 0.35, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- E116G (p.Glu116Gly), ExAC rs771566058, gnomAD rs771566058, REVEL 0.62, CADD 33.00
- E116Q (p.Glu116Gln), cosmic curated COSV58965
- R118C (p.Arg118Cys), cosmic curated COSV58971, TOPMed rs928090621, gnomAD rs928090621, REVEL 0.28, CADD 26.50
- R118H (p.Arg118His), rs923298829, ClinGen CA20751661, cosmic curated COSV58968, ClinVar RCV000547476, REVEL 0.16, CADD 8.81, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- R118L (p.Arg118Leu), cosmic curated COSV10011
- R118P (p.Arg118Pro), cosmic curated COSV58967
- A119S (p.Ala119Ser), rs142999683, ClinGen CA339424609, ClinVar RCV003056347, AlphaMissense 0.18, MetaLR 0.74, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- A119T (p.Ala119Thr), rs142999683, ClinGen CA769508, cosmic curated COSV58969, ClinVar RCV000685892, REVEL 0.49, AlphaMissense 0.18, Uncertain significance, Hereditary neutrophilia; Autosomal recessive severe congenital neutropenia due t
- A119V (p.Ala119Val), Ensembl rs964612219
- G120S (p.Gly120Ser), gnomAD rs1303863034
- Y121S (p.Tyr121Ser), ExAC rs780276211, gnomAD rs780276211, REVEL 0.24, CADD 25.30
- P123S (p.Pro123Ser), cosmic curated COSV10883
- A124S (p.Ala124Ser), cosmic curated COSV10011
- A124V (p.Ala124Val), cosmic curated COSV58969
- H127Q (p.His127Gln), rs1348822018, ClinGen CA339424167, ClinVar RCV002037180, TOPMed rs1348822018, REVEL 0.05, CADD 16.10, Uncertain significance, Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
- C131R (p.Cys131Arg), gnomAD rs1391986128, REVEL 0.86, CADD 27.00
- C131Y (p.Cys131Tyr), rs777701371, ClinGen CA769479, ClinVar RCV001820419, ExAC rs777701371, REVEL 0.81, CADD 26.20, Uncertain significance, not specified
- M133I (p.Met133Ile), cosmic curated COSV58966, TOPMed rs1650947641, gnomAD rs1650947641, REVEL 0.08, CADD 23.90
- M133K (p.Met133Lys), cosmic curated COSV10589
- N134S (p.Asn134Ser), TOPMed rs1650947311, REVEL 0.14, CADD 23.20
- L135F (p.Leu135Phe), Ensembl rs1650947071, REVEL 0.17, CADD 24.20
Public CSF3R analysis runs
- CSF3R analysis run — CSF3R (1,611 variants) — completed 2026-08-18