CD7 (T-cell antigen CD7) variants and mutations
CD7 (also known as T-cell antigen CD7) is a human protein-coding gene encoding a t-cell antigen protein. It contributes to signaling and interactions of T cells and natural-killer cells and is expressed early during lymphoid development. Its frequent expression on T-cell malignancies makes it useful diagnostically and an emerging target for cellular and antibody-based therapies. This analysis covers 637 CD7 variants and mutations. Of these, 95% have computational variant effect predictions. Disease context includes benign thyroid gland neoplasm, hypothyroidism, and acute myeloid leukemia. Example CD7 variants include A2V, G3E, and G3R.
Variant analysis overview
- Gene: CD7
- Protein: T-cell antigen CD7
- UniProt accession: P09564
- Organism: Homo sapiens
- Variants analyzed: 637
- Variant scope: all variants
- Completed: 2026-08-20
Variant and mutation evidence
- Variant composition: 300 unspecified-consequence records; 3 stop lost; 192 missense variants; 84 synonymous variants; 25 frameshift variants; 8 in-frame insertions; 13 stop-gained variants; 1 stop retained variant; 1 splice-region variants; 8 in-frame deletions; 2 substitution
- Prediction scores: 606 variants have prediction scores (95% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: benign thyroid gland neoplasm, hypothyroidism, acute myeloid leukemia, early-onset non-syndromic cataract, acute lymphoblastic leukemia, neoplasm, Total congenital cataract, Posterior polar cataract, early-onset zonular cataract, Partial congenital cataract, retinitis pigmentosa, Cataract with Y-shaped suture opacities.
Protein structure and variant hotspots
- Protein features: 1 transmembrane segments; 1 domains; 2 post-translational modification sites.
- Structural context: 258 variants have structural context.
Data sources
Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.
Notable CD7 variants
Examples include A2V, G3E, G3R, G3W, P4A, P5L, R6K, R6T. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- A2V (p.Ala2Val), Ensembl rs867697412, REVEL 0.01, CADD 12.30
- G3E (p.Gly3Glu), Ensembl rs1253988673, REVEL 0.01, CADD 0.00
- G3R (p.Gly3Arg), ExAC rs754807783, TOPMed rs754807783, gnomAD rs754807783, NCI-TCGA Cosmic COSV9948, REVEL 0.00, CADD 0.00, Variant assessed as somatic; moderate impact.
- G3W (p.Gly3Trp), ExAC rs754807783, TOPMed rs754807783, gnomAD rs754807783, REVEL 0.12, CADD 1.09
- P4A (p.Pro4Ala), rs2509849834, ClinGen CA401574257, ClinVar RCV004135037, REVEL 0.04, CADD 8.24, Likely benign, not specified
- P5L (p.Pro5Leu), rs766003973, ClinGen CA8856101, NCI-TCGA Cosmic COSV9948, cosmic curated COSV99486, REVEL 0.01, CADD 8.32, Uncertain significance, not specified
- R6K (p.Arg6Lys), ExAC rs749904144, REVEL 0.01, CADD 1.55
- R6T (p.Arg6Thr), ExAC rs749904144, REVEL 0.05, CADD 5.21
- L7F (p.Leu7Phe), ExAC rs764600064, gnomAD rs764600064, REVEL 0.01, CADD 2.94
- L9M (p.Leu9Met), TOPMed rs941486738, REVEL 0.08, CADD 11.90
- L9P (p.Leu9Pro), 1000Genomes rs532176048, REVEL 0.19, CADD 21.30
- P11L (p.Pro11Leu), ExAC rs775961541, TOPMed rs775961541, gnomAD rs775961541, REVEL 0.02, CADD 0.84
- P11S (p.Pro11Ser), gnomAD rs1174762323, REVEL 0.01, CADD 0.00
- L12M (p.Leu12Met), TOPMed rs1044255902, gnomAD rs1044255902, REVEL 0.04, CADD 0.74
- L12P (p.Leu12Pro), ExAC rs770256884, gnomAD rs770256884, REVEL 0.18, CADD 20.90, Uncertain significance, not specified
- L14V (p.Leu14Val), NCI-TCGA Cosmic COSV9948, cosmic curated COSV99486, Variant assessed as somatic; moderate impact.
- A15E (p.Ala15Glu), ExAC rs760031043, TOPMed rs760031043, gnomAD rs760031043, REVEL 0.10, CADD 0.41
- A15V (p.Ala15Val), ExAC rs760031043, TOPMed rs760031043, gnomAD rs760031043, REVEL 0.01, CADD 0.97, Uncertain significance, not specified
- L16P (p.Leu16Pro), ExAC rs771126775, gnomAD rs771126775, REVEL 0.28, CADD 22.50
- A17S (p.Ala17Ser), TOPMed rs1486993659, gnomAD rs1486993659, REVEL 0.02, CADD 2.38, Uncertain significance, not specified
- A17V (p.Ala17Val), gnomAD rs1262420948, REVEL 0.02, CADD 1.58
- R18C (p.Arg18Cys), ExAC rs747044187, gnomAD rs747044187, REVEL 0.01, CADD 0.92
- R18G (p.Arg18Gly), ExAC rs747044187, gnomAD rs747044187, REVEL 0.01, CADD 0.07
- R18H (p.Arg18His), ExAC rs773179275, TOPMed rs773179275, gnomAD rs773179275, REVEL 0.03, CADD 1.33
- G19S (p.Gly19Ser), 1000Genomes rs372973906, ESP rs372973906, ExAC rs372973906, TOPMed rs372973906, REVEL 0.02, CADD 0.04, Uncertain significance, not specified
- G19V (p.Gly19Val), rs2509849767, ClinGen CA401574082, ClinVar RCV004328646, REVEL 0.09, CADD 0.70, Uncertain significance, not specified
- L24P (p.Leu24Pro), Ensembl rs1567839175, REVEL 0.07, CADD 17.20
- A25D (p.Ala25Asp), TOPMed rs1285095709, REVEL 0.01, CADD 1.79
- A25T (p.Ala25Thr), TOPMed rs1280280147, gnomAD rs1280280147, REVEL 0.03, CADD 1.08
- A26T (p.Ala26Thr), NCI-TCGA TCGA novel, REVEL 0.03, CADD 0.00, Variant assessed as somatic; moderate impact.
- Q27R (p.Gln27Arg), gnomAD rs1398257646, REVEL 0.20, CADD 13.00
- E28A (p.Glu28Ala), gnomAD rs2052023457, REVEL 0.03, CADD 23.30
- E28K (p.Glu28Lys), ExAC rs778869218, TOPMed rs778869218, gnomAD rs778869218, REVEL 0.13, CADD 33.00
- V29A (p.Val29Ala), gnomAD rs2052023426, REVEL 0.35, CADD 23.30
- Q30R (p.Gln30Arg), ExAC rs766620194, gnomAD rs766620194, REVEL 0.03, CADD 2.29
- S32L (p.Ser32Leu), rs758663957, []
- H34R (p.His34Arg), rs781698663, []
- T36K (p.Thr36Lys), ExAC rs761148785, TOPMed rs761148785, gnomAD rs761148785, REVEL 0.20, CADD 14.10
- T36M (p.Thr36Met), cosmic curated COSV10960, ExAC rs761148785, TOPMed rs761148785, gnomAD rs761148785, REVEL 0.07, CADD 2.44
- T37I (p.Thr37Ile), TOPMed rs1375715788, gnomAD rs1375715788, REVEL 0.05, CADD 0.29
- P39S (p.Pro39Ser), NCI-TCGA Cosmic COSV5394, NCI-TCGA Cosmic COSV9948, cosmic curated COSV99486, Variant assessed as somatic; moderate impact.
- V40M (p.Val40Met), 1000Genomes rs137963164, ESP rs137963164, ExAC rs137963164, TOPMed rs137963164, REVEL 0.10, CADD 20.50
- G41E (p.Gly41Glu), NCI-TCGA Cosmic COSV5394, cosmic curated COSV53940, Ensembl rs2052023101, Variant assessed as somatic; moderate impact.
- A42T (p.Ala42Thr), Ensembl rs987198313, REVEL 0.03, CADD 9.88
- S43F (p.Ser43Phe), cosmic curated COSV53938, gnomAD rs1254199714, REVEL 0.34, CADD 22.90
- V44I (p.Val44Ile), ExAC rs775541596, TOPMed rs775541596, gnomAD rs775541596, REVEL 0.16, CADD 0.13, Likely benign, not specified
- I46V (p.Ile46Val), rs146449655, ClinGen CA8856049, ClinVar RCV004124583, ESP rs146449655, REVEL 0.37, CADD 22.60, Uncertain significance, not specified
- T47A (p.Thr47Ala), gnomAD rs1176557196, REVEL 0.27, CADD 23.60
- T47I (p.Thr47Ile), NCI-TCGA TCGA novel, Ensembl rs2052022852, Variant assessed as somatic; moderate impact.
- T47P (p.Thr47Pro), gnomAD rs1176557196
- S49F (p.Ser49Phe), TOPMed rs1483738818
- S49T (p.Ser49Thr), Ensembl rs2147260913
- T50N (p.Thr50Asn), NCI-TCGA Cosmic COSV5393, cosmic curated COSV53939, Variant assessed as somatic; moderate impact.
- S51G (p.Ser51Gly), TOPMed rs1268357453, gnomAD rs1268357453, REVEL 0.08, CADD 15.10
- G52E (p.Gly52Glu), TOPMed rs2052022636, REVEL 0.07, CADD 12.30
- G52R (p.Gly52Arg), 1000Genomes rs536476554, ExAC rs536476554, TOPMed rs536476554, gnomAD rs536476554, REVEL 0.09, CADD 16.30
- G52W (p.Gly52Trp), rs536476554, NCI-TCGA Cosmic COSV5393, cosmic curated COSV53939, 1000Genomes rs536476554, REVEL 0.09, CADD 19.00, Variant assessed as somatic; moderate impact.
- G53D (p.Gly53Asp), ExAC rs777449291, gnomAD rs777449291, REVEL 0.01, CADD 0.03, Uncertain significance, not specified
- G53S (p.Gly53Ser), NCI-TCGA Cosmic COSV9948, cosmic curated COSV99486, Variant assessed as somatic; moderate impact.
- G53V (p.Gly53Val), ExAC rs777449291, gnomAD rs777449291, REVEL 0.02, CADD 0.04
- L54V (p.Leu54Val), TOPMed rs2052022494, gnomAD rs2052022494, REVEL 0.06, CADD 16.90
- R55C (p.Arg55Cys), rs752636901, NCI-TCGA Cosmic COSV5394, cosmic curated COSV53940, ExAC rs752636901, REVEL 0.17, CADD 4.92, Variant assessed as somatic; moderate impact.
- R55G (p.Arg55Gly), ExAC rs752636901, TOPMed rs752636901, gnomAD rs752636901, REVEL 0.06, CADD 0.11
- R55H (p.Arg55His), ExAC rs780666550, TOPMed rs780666550, gnomAD rs780666550, REVEL 0.02, CADD 0.01
- G56E (p.Gly56Glu), TOPMed rs1431697424, gnomAD rs1431697424
- G56W (p.Gly56Trp), 1000Genomes rs369560649, ESP rs369560649, ExAC rs369560649, TOPMed rs369560649, REVEL 0.21, CADD 23.00, Uncertain significance, not specified
- I57F (p.Ile57Phe), Ensembl rs2052022302
- Y58C (p.Tyr58Cys), gnomAD rs1397888304, REVEL 0.20, CADD 21.80
- Y58S (p.Tyr58Ser), gnomAD rs1397888304, SIFT 0.00
- L59M (p.Leu59Met), NCI-TCGA Cosmic COSV5393, cosmic curated COSV53939, Variant assessed as somatic; moderate impact.
- R60K (p.Arg60Lys), TOPMed rs2052022171
- R60T (p.Arg60Thr), TOPMed rs2052022171, SIFT 0.01
- R60W (p.Arg60Trp), ExAC rs767665951, TOPMed rs767665951, gnomAD rs767665951, REVEL 0.10, CADD 22.70
- Q61H (p.Gln61His), NCI-TCGA Cosmic COSV9948, cosmic curated COSV99486, Variant assessed as somatic; moderate impact.
- L62F (p.Leu62Phe), cosmic curated COSV53938, gnomAD rs1365035988, REVEL 0.03, CADD 2.77
- G63R (p.Gly63Arg), TOPMed rs1400011298, gnomAD rs1400011298, REVEL 0.14, CADD 11.00
- P64L (p.Pro64Leu), ExAC rs751596683, gnomAD rs751596683, REVEL 0.09, CADD 23.90
- Q65E (p.Gln65Glu), ExAC rs764046332, gnomAD rs764046332, REVEL 0.03, CADD 0.86
- P66L (p.Pro66Leu), Ensembl rs2052021972, SIFT 0.98
- Q67E (p.Gln67Glu), TOPMed rs1454796692, gnomAD rs1454796692, REVEL 0.14, CADD 0.03, Uncertain significance, not specified
- Q67R (p.Gln67Arg), TOPMed rs2052021872
- D68H (p.Asp68His), NCI-TCGA Cosmic COSV5393, cosmic curated COSV53939, Variant assessed as somatic; moderate impact.
- D68Y (p.Asp68Tyr), TOPMed rs2052021814, REVEL 0.10, CADD 0.70
- I69V (p.Ile69Val), TOPMed rs1431724891, gnomAD rs1431724891, REVEL 0.09, CADD 5.86
- Y72* (p.Tyr72Ter), ExAC rs775278619, TOPMed rs775278619, gnomAD rs775278619, CADD 28.90
- Y72F (p.Tyr72Phe), TOPMed rs2052021727
- E73D (p.Glu73Asp), TOPMed rs2052021635, SIFT 0.01
- E73K (p.Glu73Lys), rs769841402, NCI-TCGA Cosmic COSV9948, cosmic curated COSV99486, ExAC rs769841402, REVEL 0.17, CADD 22.80, Variant assessed as somatic; moderate impact.
- E73Q (p.Glu73Gln), ExAC rs769841402, TOPMed rs769841402, gnomAD rs769841402, REVEL 0.13, CADD 22.50
- G75E (p.Gly75Glu), rs746691752, ExAC rs746691752, gnomAD rs746691752, REVEL 0.03, CADD 0.00, Variant assessed as somatic; moderate impact.
- G75R (p.Gly75Arg), 1000Genomes rs367864176, ExAC rs367864176, TOPMed rs367864176, gnomAD rs367864176, REVEL 0.06, CADD 0.97, Likely benign, not specified
- G75W (p.Gly75Trp), cosmic curated COSV53939, 1000Genomes rs367864176, ExAC rs367864176, TOPMed rs367864176
- V76L (p.Val76Leu), Ensembl rs906613460, REVEL 0.05, CADD 0.01
- V77M (p.Val77Met), Ensembl rs2052021443
- P78H (p.Pro78His), ExAC rs747760642, gnomAD rs747760642, REVEL 0.22, CADD 19.70
- P78L (p.Pro78Leu), ExAC rs747760642, gnomAD rs747760642, REVEL 0.22, CADD 22.80
- P78S (p.Pro78Ser), ExAC rs777616654, gnomAD rs777616654, REVEL 0.03, CADD 5.83
- P78P (p.Pro78Pro), rs1260188262, gnomAD 17-82316180-G-A, CADD 5.06
- P78T (p.Pro78Thr), gnomAD 17-82316182-G-T, CADD 6.88
- T79A (p.Thr79Ala), Ensembl rs2052021342
- T79N (p.Thr79Asn), ExAC rs780357425, gnomAD rs780357425
- T80A (p.Thr80Ala), ExAC rs750733089, gnomAD rs750733089, REVEL 0.11, CADD 15.60
- T80K (p.Thr80Lys), ExAC rs781565740, TOPMed rs781565740, gnomAD rs781565740, SIFT 0.01
- T80M (p.Thr80Met), rs781565740, NCI-TCGA Cosmic COSV5393, cosmic curated COSV53938, ExAC rs781565740, REVEL 0.15, CADD 20.80, Variant assessed as somatic; moderate impact.
- D81E (p.Asp81Glu), rs754450176, ClinGen CA8856018, ClinVar RCV004191282, ExAC rs754450176, REVEL 0.09, CADD 13.40, Uncertain significance, not specified
- R82K (p.Arg82Lys), NCI-TCGA Cosmic COSV5394, cosmic curated COSV53940, SIFT 0.12, Variant assessed as somatic; moderate impact.
- R83L (p.Arg83Leu), ExAC rs762941902, TOPMed rs762941902, gnomAD rs762941902, REVEL 0.19, CADD 0.01
- R83Q (p.Arg83Gln), ExAC rs762941902, TOPMed rs762941902, gnomAD rs762941902, REVEL 0.19, CADD 0.01
- R83W (p.Arg83Trp), cosmic curated COSV53938, ExAC rs764436785, TOPMed rs764436785, gnomAD rs764436785, REVEL 0.14, CADD 15.20, Uncertain significance, not specified
- F84L (p.Phe84Leu), rs1443620452, NCI-TCGA Cosmic COSV5393, cosmic curated COSV53938, TOPMed rs1443620452, REVEL 0.17, CADD 22.90, Variant assessed as somatic; moderate impact.
- R85P (p.Arg85Pro), ExAC rs776529392, TOPMed rs776529392, gnomAD rs776529392, SIFT 0.13, Uncertain significance, not specified
- R85Q (p.Arg85Gln), ExAC rs776529392, TOPMed rs776529392, gnomAD rs776529392, REVEL 0.08, CADD 0.00
- R85W (p.Arg85Trp), cosmic curated COSV53940, ExAC rs533170626, TOPMed rs533170626, gnomAD rs533170626, REVEL 0.10, CADD 1.34
- G86D (p.Gly86Asp), TOPMed rs2052020911, REVEL 0.18, CADD 1.74
- R87C (p.Arg87Cys), ExAC rs766247933, TOPMed rs766247933, gnomAD rs766247933, REVEL 0.45, CADD 23.70
- R87H (p.Arg87His), rs11575046, ClinGen CA8856010, ClinVar RCV004289710, ESP rs11575046, REVEL 0.45, CADD 23.10, Uncertain significance, not specified
- R87P (p.Arg87Pro), ESP rs11575046, ExAC rs11575046, TOPMed rs11575046, gnomAD rs11575046, SIFT 0.00, Uncertain significance
- I88M (p.Ile88Met), 1000Genomes rs200852377, ESP rs200852377, ExAC rs200852377, TOPMed rs200852377, REVEL 0.13, CADD 14.90
- I88V (p.Ile88Val), ESP rs144424259, TOPMed rs144424259, gnomAD rs144424259, REVEL 0.02, CADD 0.00
- D89A (p.Asp89Ala), NCI-TCGA Cosmic COSV9948, cosmic curated COSV99486, Variant assessed as somatic; moderate impact.
- D89N (p.Asp89Asn), 1000Genomes rs747553606, ExAC rs747553606, TOPMed rs747553606, gnomAD rs747553606, REVEL 0.02, CADD 0.09
- G92E (p.Gly92Glu), TOPMed rs2052020667, REVEL 0.34, CADD 22.20
- G92W (p.Gly92Trp), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- S93F (p.Ser93Phe), cosmic curated COSV53940, ExAC rs773930585, TOPMed rs773930585, gnomAD rs773930585, REVEL 0.14, CADD 15.30
- Q94R (p.Gln94Arg), rs2052020578, ClinGen CA401572894, ClinVar RCV004344713, gnomAD rs2052020578, REVEL 0.07, CADD 8.86, Uncertain significance, not specified
- D95Y (p.Asp95Tyr), TOPMed rs2052020518
- T98I (p.Thr98Ile), gnomAD rs1259072984, REVEL 0.45, CADD 22.60
- T100I (p.Thr100Ile), TOPMed rs2052020306
- T100P (p.Thr100Pro), Ensembl rs1599647409
- M101K (p.Met101Lys), TOPMed rs2052020243, gnomAD rs2052020243
- M101V (p.Met101Val), TOPMed rs2052020269, SIFT 0.72
- H102P (p.His102Pro), Ensembl rs1599647405, SIFT 0.02
- H102Q (p.His102Gln), gnomAD 17-82316165-G-T, CADD 4.54
- H102H (p.His102His), rs542943579, gnomAD 17-82316165-G-A, CADD 5.10
- H102L (p.His102Leu), rs1423621262, gnomAD 17-82316166-T-A, CADD 3.56
- H102Y (p.His102Tyr), gnomAD 17-82316167-G-A, CADD 1.40
- H102T (p.His102Thr), gnomAD 17-82316172-TG-T, CADD 8.44
- H102N (p.His102Asn), gnomAD 17-82316173-G-T, CADD 9.20
- R103C (p.Arg103Cys), rs149247674, cosmic curated COSV53939, 1000Genomes rs149247674, ESP rs149247674, REVEL 0.12, CADD 22.50, Variant assessed as somatic; moderate impact.
- R103H (p.Arg103His), rs781698663, ClinGen CA8856003, NCI-TCGA Cosmic COSV5393, cosmic curated COSV53939, REVEL 0.06, CADD 0.01, Likely benign, not specified
- Q105H (p.Gln105His), TOPMed rs1217412921, gnomAD rs1217412921, REVEL 0.22, CADD 22.70, Uncertain significance, not specified
- L106P (p.Leu106Pro), 1000Genomes rs193102571, ExAC rs193102571, TOPMed rs193102571, gnomAD rs193102571, REVEL 0.07, CADD 0.03, Likely benign, not specified
- L106V (p.Leu106Val), ExAC rs747444160, TOPMed rs747444160, gnomAD rs747444160, REVEL 0.13, CADD 3.46, Uncertain significance, not specified
- L106L (p.Leu106Leu), gnomAD 17-82316168-C-T, CADD 6.89
- L106Q (p.Leu106Gln), gnomAD 17-82316169-A-T, CADD 1.62
- L106M (p.Leu106Met), gnomAD 17-82316170-G-T, CADD 10.50
- S107L (p.Ser107Leu), cosmic curated COSV53940, ExAC rs758663957, TOPMed rs758663957, gnomAD rs758663957, REVEL 0.05, CADD 14.20, Uncertain significance, not specified
- S107N (p.Ser107Asn), rs1425790661, gnomAD 17-82316178-C-T, CADD 1.08
- S107G (p.Ser107Gly), gnomAD 17-82316179-T-C, CADD 0.90
- S107R (p.Ser107Arg), gnomAD 17-82316183-G-T, CADD 5.15
- S107I (p.Ser107Ile), gnomAD 17-82316184-C-A, CADD 3.49
- S107C (p.Ser107Cys), rs1409123677, gnomAD 17-82316185-T-A, CADD 7.49
- D108G (p.Asp108Gly), gnomAD rs1331763584, REVEL 0.52, CADD 23.20
- D108N (p.Asp108Asn), gnomAD rs2052019945, REVEL 0.32, CADD 22.60
- D108D (p.Asp108Asp), rs1167975780, gnomAD 17-82316156-A-G, CADD 6.40
- D108E (p.Asp108Glu), rs1167975780, gnomAD 17-82316156-A-C, CADD 6.08
- D108I (p.Asp108Ile), rs2052011661, gnomAD 17-82316158-CT-C, CADD 0.55
- D108Y (p.Asp108Tyr), rs760684249, gnomAD 17-82316158-C-A, CADD 1.55
- G110D (p.Gly110Asp), rs368275980, ClinGen CA8855996, cosmic curated COSV53940, ClinVar RCV004312739, AlphaMissense 0.88, MetaLR 0.28, Uncertain significance, not specified
- T111P (p.Thr111Pro), gnomAD rs1170069135
- T113A (p.Thr113Ala), rs34579511, cosmic curated COSV99077, UniProt VAR 049855, 1000Genomes rs34579511, REVEL 0.01, CADD 4.26
- T113N (p.Thr113Asn), gnomAD rs1186094970, REVEL 0.05, CADD 14.80
- T113P (p.Thr113Pro), 1000Genomes rs34579511, ESP rs34579511, ExAC rs34579511, TOPMed rs34579511, REVEL 0.18, CADD 15.80
- T113S (p.Thr113Ser), 1000Genomes rs34579511, ESP rs34579511, ExAC rs34579511, TOPMed rs34579511, REVEL 0.06, CADD 11.80
- C114S (p.Cys114Ser), ExAC rs760479054, gnomAD rs760479054, REVEL 0.80, CADD 23.20
- C114C (p.Cys114Cys), gnomAD 17-82316153-A-G, CADD 9.71
- C114F (p.Cys114Phe), rs764402901, gnomAD 17-82316154-C-A, CADD 0.24
- C114* (p.Cys114Ter), gnomAD 17-82316174-G-T, CADD 1.81
- C114Y (p.Cys114Tyr), gnomAD 17-82316175-C-T, CADD 4.70
- C114R (p.Cys114Arg), gnomAD 17-82316176-A-G, CADD 9.31
- A116S (p.Ala116Ser), ExAC rs767024043, TOPMed rs767024043, gnomAD rs767024043, REVEL 0.20, CADD 17.70
- A116T (p.Ala116Thr), ExAC rs767024043, TOPMed rs767024043, gnomAD rs767024043, REVEL 0.17, CADD 19.60
- T118A (p.Thr118Ala), TOPMed rs1200908125, gnomAD rs1200908125, REVEL 0.04, CADD 0.01
- T118M (p.Thr118Met), ExAC rs761555423, TOPMed rs761555423, gnomAD rs761555423, REVEL 0.07, CADD 0.01
- E119K (p.Glu119Lys), cosmic curated COSV53940, TOPMed rs2052019514, gnomAD rs2052019514, REVEL 0.03, CADD 0.54
- E119Q (p.Glu119Gln), TOPMed rs2052019514, gnomAD rs2052019514, SIFT 1.00
- V120F (p.Val120Phe), gnomAD rs1194755425, REVEL 0.14, CADD 0.08
- V120I (p.Val120Ile), gnomAD rs1194755425, REVEL 0.05, CADD 0.00
- V120V (p.Val120Val), gnomAD 17-82316186-C-A, CADD 6.92
- V120M (p.Val120Met), gnomAD 17-82316188-C-T, CADD 5.82
Public CD7 analysis runs
- CD7 analysis run — CD7 (637 variants) — completed 2026-08-20