RELA (Transcription factor p65) variants and mutations
RELA (also known as Transcription factor p65) is a human protein-coding gene encoding a transcription factor p65 protein. It supplies the p65 transcriptional subunit of canonical NF-kappaB, driving inflammatory, immune, survival, and stress-response genes after receptor activation. Haploinsufficiency can cause chronic mucocutaneous ulceration and immune dysregulation, while excessive activation is common in inflammatory disease and cancer. This analysis covers 977 RELA variants and mutations. Of these, 82% have computational variant effect predictions. Disease context includes mucocutaneous ulceration, chronic, neurodegenerative disease, and Alzheimer disease. Example RELA variants include E3*, L4V, and P6S.
Variant analysis overview
- Gene: RELA
- Protein: Transcription factor p65
- UniProt accession: Q04206
- Organism: Homo sapiens
- Variants analyzed: 977
- Variant scope: all variants
- Completed: 2026-08-19
Variant and mutation evidence
- Variant composition: 543 unspecified-consequence records; 2 stop retained variant; 128 synonymous variants; 255 missense variants; 12 in-frame deletions; 15 frameshift variants; 12 stop-gained variants; 1 splice-region variants; 4 stop lost; 5 substitution
- Prediction scores: 804 variants have prediction scores (82% of the analyzed set).
Clinical, disease, and population context
- Disease context: 25 disease associations are represented. Top associations: mucocutaneous ulceration, chronic, neurodegenerative disease, Alzheimer disease, Parkinson disease, multiple sclerosis, inborn error of immunity, severe acute respiratory syndrome, lysosomal storage disease, autoimmune disorder of central nervous system, Duchenne muscular dystrophy, gastric adenocarcinoma, Rare pervasive developmental disorder.
Protein structure and variant hotspots
- Protein features: 1 domains; 19 post-translational modification sites.
- Structural context: 249 variants have structural context.
- PTM context: 23 variants overlap post-translational modification sites.
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 RELA variants
Examples include E3*, L4V, P6S, L7F, I8M, F9V, P10A, P10L. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.
- E3* (p.Glu3Ter), Ensembl rs1856608678, CADD 50.00
- L4V (p.Leu4Val), ExAC rs750044010, TOPMed rs750044010, REVEL 0.11, CADD 15.90
- P6S (p.Pro6Ser), gnomAD rs1402366956, REVEL 0.13, CADD 23.10
- L7F (p.Leu7Phe), rs2496871323, ClinGen CA381395180, ClinVar RCV003048742, REVEL 0.08, CADD 19.30, Uncertain significance, not provided
- I8M (p.Ile8Met), gnomAD rs1169785805, REVEL 0.10, CADD 25.00
- F9V (p.Phe9Val), gnomAD rs1462514055, REVEL 0.13, CADD 23.50
- P10A (p.Pro10Ala), TOPMed rs1263528129, Uncertain significance
- P10L (p.Pro10Leu), rs368784411, ClinGen CA224011379, cosmic curated COSV10589, ClinVar RCV002583597, REVEL 0.09, CADD 22.60, Uncertain significance, not provided
- P10S (p.Pro10Ser), rs1263528129, ClinGen CA381395159, ClinVar RCV002681201, TOPMed rs1263528129, REVEL 0.03, CADD 14.90, Uncertain significance, not provided
- E12D (p.Glu12Asp), gnomAD rs1338619714, REVEL 0.12, CADD 21.30
- A14V (p.Ala14Val), gnomAD rs1332337161, REVEL 0.03, CADD 14.30, Uncertain significance, not provided
- A16V (p.Ala16Val), rs1376292952, ClinGen CA381395105, ClinVar RCV003663236, gnomAD rs1376292952, REVEL 0.05, CADD 26.50, Uncertain significance, not provided
- S17P (p.Ser17Pro), gnomAD rs1418277571
- P19L (p.Pro19Leu), gnomAD rs1472798377
- P19S (p.Pro19Ser), rs1159476176, NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, gnomAD rs1159476176, REVEL 0.58, CADD 27.60, Variant assessed as somatic; moderate impact.
- Y20C (p.Tyr20Cys), rs765199827, ClinGen CA6106985, ClinVar RCV001993929, ExAC rs765199827, REVEL 0.13, CADD 24.40, Uncertain significance, not provided
- Y20S (p.Tyr20Ser), ExAC rs765199827, TOPMed rs765199827, gnomAD rs765199827, Uncertain significance
- V21A (p.Val21Ala), rs2496870169, ClinGen CA381395075, ClinVar RCV004443811, ClinVar RCV006484051, REVEL 0.35, CADD 27.40, Uncertain significance, not provided; not specified
- E22Q (p.Glu22Gln), rs2496870152, ClinGen CA381395072, ClinVar RCV002791842, Uncertain significance, not provided
- P27S (p.Pro27Ser), gnomAD rs1213950702
- P27L (p.Pro27Leu), rs9378, Pathogenic
- K28Q (p.Lys28Gln), ExAC rs753627793, gnomAD rs753627793, REVEL 0.20, CADD 28.20
- M32I (p.Met32Ile), TOPMed rs1856581966
- R33C (p.Arg33Cys), rs2496869967, ClinGen CA381394994, ClinVar RCV002296204, REVEL 0.81, CADD 32.00, Uncertain significance, not provided
- R35H (p.Arg35His), Ensembl rs1856581803
- Y36H (p.Tyr36His), gnomAD rs1285811443
- C38* (p.Cys38Ter), rs2135572911, ClinGen CA2573147391, ClinVar RCV001913491, Ensembl rs2135572911, Pathogenic
- C38Y (p.Cys38Tyr), TOPMed rs1856581526
- E39* (p.Glu39Ter), rs1268667021, ClinGen CA381394948, ClinVar RCV001953505, TOPMed rs1268667021, AlphaMissense 1.00, MetaLR 0.63, Pathogenic
- E39K (p.Glu39Lys), NCI-TCGA Cosmic COSV5801, cosmic curated COSV58014, Variant assessed as somatic; moderate impact.
- E39Q (p.Glu39Gln), cosmic curated COSV58013, TOPMed rs1268667021, gnomAD rs1268667021, REVEL 0.75, AlphaMissense 1.00, Pathogenic
- S42F (p.Ser42Phe), gnomAD rs1193259548, REVEL 0.70, CADD 29.40
- G44V (p.Gly44Val), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, Variant assessed as somatic; moderate impact.
- S45N (p.Ser45Asn), ExAC rs764030082, gnomAD rs764030082, REVEL 0.42, CADD 26.00
- E49K (p.Glu49Lys), rs969818412, NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, gnomAD rs969818412, REVEL 0.41, CADD 29.10, Variant assessed as somatic; moderate impact.
- R50K (p.Arg50Lys), gnomAD rs1167688221, REVEL 0.06, CADD 18.60, Uncertain significance, not provided
- S51R (p.Ser51Arg), ExAC rs770416604, TOPMed rs770416604, gnomAD rs770416604, REVEL 0.45, CADD 25.90
- T52K (p.Thr52Lys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- D53Y (p.Asp53Tyr), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- T54I (p.Thr54Ile), TOPMed rs1856579981
- T54N (p.Thr54Asn), TOPMed rs1856579981
- P59S (p.Pro59Ser), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, Variant assessed as somatic; moderate impact.
- I61V (p.Ile61Val), rs2496869423, ClinGen CA381394795, ClinVar RCV003011791, ClinVar RCV004857939, REVEL 0.03, CADD 23.10, Uncertain significance, not provided; not specified
- I63V (p.Ile63Val), Ensembl rs2135572206
- N64K (p.Asn64Lys), Ensembl rs2135572172
- N64S (p.Asn64Ser), cosmic curated COSV58015, Ensembl rs1565192440, REVEL 0.03, CADD 23.00, Uncertain significance, not provided
- G65V (p.Gly65Val), ESP rs368661961, ExAC rs368661961, TOPMed rs368661961, gnomAD rs368661961, REVEL 0.30, CADD 28.40
- P69S (p.Pro69Ser), ExAC rs779944761, TOPMed rs779944761, gnomAD rs779944761, REVEL 0.10, CADD 23.30
- V72L (p.Val72Leu), gnomAD rs1412466213, REVEL 0.20, CADD 23.00
- R73C (p.Arg73Cys), rs151125290, ClinGen CA224011109, cosmic curated COSV58014, ClinVar RCV001988881, REVEL 0.58, CADD 32.00, Uncertain significance, not provided
- R73H (p.Arg73His), cosmic curated COSV10816, TOPMed rs1438780274, gnomAD rs1438780274, REVEL 0.52, CADD 28.00
- T78N (p.Thr78Asn), rs1178830994, ClinGen CA381394487, ClinVar RCV003002810, TOPMed rs1178830994, REVEL 0.44, CADD 26.50, Uncertain significance, not provided
- K79R (p.Lys79Arg), TOPMed rs1480907469, gnomAD rs1480907469, REVEL 0.31, CADD 30.00
- D80E (p.Asp80Glu), ExAC rs761767619, TOPMed rs761767619, gnomAD rs761767619, REVEL 0.06, CADD 19.50, Likely benign
- D80G (p.Asp80Gly), TOPMed rs1856574149
- D80V (p.Asp80Val), TOPMed rs1856574149, Uncertain significance, Mucocutaneous ulceration, chronic
- P81H (p.Pro81His), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- P81R (p.Pro81Arg), gnomAD rs1282651820, REVEL 0.08, CADD 23.80
- P81S (p.Pro81Ser), rs1484848625, ClinGen CA381394456, cosmic curated COSV58014, ClinVar RCV003731777, REVEL 0.02, CADD 20.60, Uncertain significance, not provided
- P82H (p.Pro82His), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, Variant assessed as somatic; moderate impact.
- H83Q (p.His83Gln), gnomAD rs1353372476
- R84Q (p.Arg84Gln), cosmic curated COSV58016, ExAC rs752869747, gnomAD rs752869747, REVEL 0.19, CADD 29.20, Uncertain significance, not provided
- H86P (p.His86Pro), Ensembl rs1590939582
- P87A (p.Pro87Ala), gnomAD rs1856573262, REVEL 0.32, CADD 26.40
- E89A (p.Glu89Ala), 1000Genomes rs2135571746
- V91L (p.Val91Leu), TOPMed rs1012952762
- K93R (p.Lys93Arg), gnomAD rs1374686489, REVEL 0.27, CADD 28.80
- D94N (p.Asp94Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R96L (p.Arg96Leu), gnomAD rs11557248, REVEL 0.16, CADD 24.30
- R96Q (p.Arg96Gln), gnomAD rs11557248, REVEL 0.07, CADD 24.30, Uncertain significance, not provided
- R96W (p.Arg96Trp), rs759715841, ClinGen CA6106940, ClinVar RCV001965660, ClinVar RCV004656784, REVEL 0.22, CADD 29.10, Uncertain significance, not provided; not specified
- D97G (p.Asp97Gly), Ensembl rs1856572106
- D97N (p.Asp97Asn), ExAC rs766963304, TOPMed rs766963304, gnomAD rs766963304, REVEL 0.11, CADD 25.00
- G98S (p.Gly98Ser), Ensembl rs1856572014
- F99L (p.Phe99Leu), NCI-TCGA Cosmic COSV5801, cosmic curated COSV58014, Uncertain significance, not provided
- Y100C (p.Tyr100Cys), 1000Genomes rs562262364, ExAC rs562262364, gnomAD rs562262364, REVEL 0.32, CADD 25.30
- Y100H (p.Tyr100His), gnomAD rs1358445187, REVEL 0.64, CADD 29.90
- A102V (p.Ala102Val), NCI-TCGA Cosmic COSV5801, cosmic curated COSV58014, Variant assessed as somatic; moderate impact.
- E103D (p.Glu103Asp), TOPMed rs1856571734, REVEL 0.08, CADD 15.00
- L104F (p.Leu104Phe), ExAC rs773613820, gnomAD rs773613820, REVEL 0.16, CADD 24.10
- L104V (p.Leu104Val), ExAC rs773613820, gnomAD rs773613820, REVEL 0.12, CADD 24.40
- P106L (p.Pro106Leu), ExAC rs774014347, TOPMed rs774014347, gnomAD rs774014347, REVEL 0.31, CADD 29.50
- P106Q (p.Pro106Gln), ExAC rs774014347, TOPMed rs774014347, gnomAD rs774014347, REVEL 0.16, CADD 24.30
- P106R (p.Pro106Arg), ExAC rs774014347, TOPMed rs774014347, gnomAD rs774014347, Uncertain significance, not specified
- D107N (p.Asp107Asn), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- R108C (p.Arg108Cys), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, ExAC rs748761373, gnomAD rs748761373, Variant assessed as somatic; moderate impact.
- R108H (p.Arg108His), rs1488068046, gnomAD rs1488068046, REVEL 0.16, CADD 24.60, Variant assessed as somatic; moderate impact.
- R108S (p.Arg108Ser), ExAC rs748761373, gnomAD rs748761373, REVEL 0.14, CADD 25.50
- I110M (p.Ile110Met), rs779601305, ClinGen CA6106930, ClinVar RCV002038217, ClinVar RCV004046190, REVEL 0.18, CADD 23.50, Uncertain significance, not specified; not provided
- I110T (p.Ile110Thr), rs863223356, ClinGen CA279852, ClinVar RCV000202330, Ensembl rs863223356, REVEL 0.28, CADD 25.20, Likely pathogenic, Childhood-onset schizophrenia
- H111Y (p.His111Tyr), rs769755404, ClinGen CA6106929, cosmic curated COSV58013, ClinVar RCV001901870, REVEL 0.23, CADD 25.00, Uncertain significance, not provided
- Q114R (p.Gln114Arg), rs2135565673, ClinGen CA381393752, ClinVar RCV001900371, Ensembl rs2135565673, AlphaMissense 0.97, MetaLR 0.23, Uncertain significance, not provided
- Q119* (p.Gln119Ter), rs2496858372, ClinGen CA381393698, ClinVar RCV003708989, Pathogenic
- K123R (p.Lys123Arg), ExAC rs749535863, gnomAD rs749535863, REVEL 0.15, CADD 23.20, Uncertain significance, not provided
- R124Q (p.Arg124Gln), ExAC rs780140984, REVEL 0.16, CADD 25.80
- R124W (p.Arg124Trp), rs1856528845, ClinGen CA381393609, NCI-TCGA Cosmic COSV5801, cosmic curated COSV58013, REVEL 0.34, CADD 32.00, Uncertain significance, not specified
- E127G (p.Glu127Gly), Ensembl rs2135565563, REVEL 0.08, CADD 26.30
- E127K (p.Glu127Lys), rs1172744425, NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, NCI-TCGA Cosmic COSV5801, REVEL 0.16, CADD 25.90, Variant assessed as somatic; moderate impact.
- E127Q (p.Glu127Gln), NCI-TCGA Cosmic COSV1004, NCI-TCGA Cosmic COSV5801, cosmic curated COSV58015, Variant assessed as somatic; moderate impact.
- A129T (p.Ala129Thr), rs2135565555, ClinGen CA381393547, ClinVar RCV001915384, Ensembl rs2135565555, AlphaMissense 0.95, MetaLR 0.24, Uncertain significance, not provided
- I130V (p.Ile130Val), gnomAD rs1429314714, REVEL 0.05, CADD 19.60
- S131T (p.Ser131Thr), NCI-TCGA Cosmic COSV5801, cosmic curated COSV58016, Variant assessed as somatic; moderate impact.
- R133C (p.Arg133Cys), rs1856528412, ClinGen CA381393486, ClinVar RCV003711377, TOPMed rs1856528412, AlphaMissense 1.00, MetaLR 0.46, Uncertain significance, not provided
- R133H (p.Arg133His), rs750564559, NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, ExAC rs750564559, REVEL 0.67, CADD 29.30, Variant assessed as somatic; moderate impact.
- I134T (p.Ile134Thr), rs2496858008, ClinGen CA381393466, ClinVar RCV003566922, Uncertain significance, not provided
- Q135H (p.Gln135His), ExAC rs767880564, TOPMed rs767880564, gnomAD rs767880564, REVEL 0.15, CADD 24.60
- T136A (p.Thr136Ala), ExAC rs757845338, gnomAD rs757845338, REVEL 0.21, CADD 24.10
- N138I (p.Asn138Ile), gnomAD rs1254116157, REVEL 0.28, CADD 23.20
- N139S (p.Asn139Ser), NCI-TCGA TCGA novel, ExAC rs751905199, gnomAD rs751905199, REVEL 0.38, CADD 25.80, Variant assessed as somatic; moderate impact.
- N139T (p.Asn139Thr), ExAC rs751905199, gnomAD rs751905199
- P140L (p.Pro140Leu), NCI-TCGA Cosmic COSV5801, cosmic curated COSV58016, Variant assessed as somatic; moderate impact.
- F141S (p.Phe141Ser), gnomAD rs1336819380
- P144H (p.Pro144His), gnomAD rs1436789790
- I145T (p.Ile145Thr), gnomAD rs1158346001, REVEL 0.07, CADD 19.10, Uncertain significance, not provided
- I145V (p.Ile145Val), cosmic curated COSV10042, ESP rs140130811, gnomAD rs140130811, REVEL 0.04, CADD 13.40
- E146G (p.Glu146Gly), Ensembl rs1255403640
- E147G (p.Glu147Gly), gnomAD rs1469104216, REVEL 0.16, CADD 31.00
- Q148* (p.Gln148Ter), rs1590937041, ClinGen CA381393200, ClinVar RCV003681959, AlphaMissense 0.35, MetaLR 0.11, Pathogenic
- Q148E (p.Gln148Glu), TOPMed rs1590937041
- Q148R (p.Gln148Arg), TOPMed rs1345639265, gnomAD rs1345639265, REVEL 0.11, CADD 23.30
- R149C (p.Arg149Cys), rs1365998197, ClinGen CA381393178, ClinVar RCV002006135, TOPMed rs1365998197, REVEL 0.14, CADD 32.00, Uncertain significance, not provided
- R149H (p.Arg149His), rs761250712, ClinGen CA6106876, NCI-TCGA Cosmic COSV5801, cosmic curated COSV58015, REVEL 0.08, CADD 24.20, Uncertain significance, not provided
- R149L (p.Arg149Leu), ExAC rs761250712, TOPMed rs761250712, gnomAD rs761250712, REVEL 0.09, CADD 22.90, Uncertain significance
- G150R (p.Gly150Arg), rs2496854987, ClinGen CA381393167, ClinVar RCV002608779, REVEL 0.07, CADD 24.90, Uncertain significance, not provided
- Y152C (p.Tyr152Cys), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- V157M (p.Val157Met), gnomAD rs1398971779
- R158Q (p.Arg158Gln), ESP rs375925395, ExAC rs375925395, TOPMed rs375925395, gnomAD rs375925395, REVEL 0.67, CADD 32.00
- R158W (p.Arg158Trp), NCI-TCGA Cosmic COSV5801, cosmic curated COSV58015, REVEL 0.64, CADD 32.00, Variant assessed as somatic; moderate impact.
- C160G (p.Cys160Gly), Ensembl rs2135564218
- T164I (p.Thr164Ile), rs1856517107, ClinGen CA381393005, ClinVar RCV003860219, TOPMed rs1856517107, REVEL 0.07, CADD 23.40, Uncertain significance, not provided
- T164S (p.Thr164Ser), gnomAD rs1457182302, REVEL 0.07, CADD 21.00
- V165A (p.Val165Ala), rs957917859, ClinGen CA224010160, ClinVar RCV001884388, TOPMed rs957917859, REVEL 0.23, CADD 24.40, Uncertain significance, not provided
- R166Q (p.Arg166Gln), ExAC rs774268451, TOPMed rs774268451, gnomAD rs774268451, REVEL 0.04, CADD 16.70
- R166W (p.Arg166Trp), rs568782744, ClinGen CA6106869, NCI-TCGA Cosmic COSV5801, cosmic curated COSV58014, REVEL 0.25, CADD 24.50, Uncertain significance, not specified
- D167A (p.Asp167Ala), Ensembl rs1590936944, REVEL 0.21, CADD 27.50
- D167E (p.Asp167Glu), Ensembl rs2135564076, Likely benign
- D167H (p.Asp167His), ExAC rs769890889, gnomAD rs769890889, REVEL 0.20, CADD 25.50
- P168A (p.Pro168Ala), rs1416924926, ClinGen CA381392932, ClinVar RCV002807045, TOPMed rs1416924926, REVEL 0.01, CADD 13.00, Uncertain significance, not provided
- P168L (p.Pro168Leu), rs1422039715, TOPMed rs1422039715, REVEL 0.03, CADD 18.10, Variant assessed as somatic; moderate impact.
- S169A (p.Ser169Ala), Ensembl rs2375676
- S169T (p.Ser169Thr), Ensembl rs2375676
- G170S (p.Gly170Ser), Ensembl rs1856516025, REVEL 0.30, CADD 26.10
- R171S (p.Arg171Ser), rs746111744, ExAC rs746111744, TOPMed rs746111744, gnomAD rs746111744, REVEL 0.13, CADD 23.60, Uncertain significance, not provided
- P172L (p.Pro172Leu), TOPMed rs1856515439
- P172S (p.Pro172Ser), gnomAD rs1399250604, REVEL 0.04, CADD 21.10
- L173H (p.Leu173His), TOPMed rs1590936874
- L173P (p.Leu173Pro), TOPMed rs1590936874
- R174C (p.Arg174Cys), rs1159602684, ClinGen CA381392839, NCI-TCGA Cosmic COSV5801, cosmic curated COSV58014, REVEL 0.09, CADD 23.00, Uncertain significance, not provided
- R174H (p.Arg174His), rs1461359004, ClinGen CA381392838, ClinVar RCV002601240, ClinVar RCV004065636, REVEL 0.03, CADD 21.50, Uncertain significance, not provided; not specified
- P176L (p.Pro176Leu), cosmic curated COSV58016, ExAC rs747469170, TOPMed rs747469170, gnomAD rs747469170, REVEL 0.20, CADD 19.20, Uncertain significance, not provided; not specified
- P176S (p.Pro176Ser), TOPMed rs1301308246, REVEL 0.06, CADD 13.00, Uncertain significance, not provided
- V178A (p.Val178Ala), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, Variant assessed as somatic; moderate impact.
- V178I (p.Val178Ile), TOPMed rs548164575, REVEL 0.22, CADD 18.30, Uncertain significance, not provided
- V178L (p.Val178Leu), TOPMed rs548164575
- H181R (p.His181Arg), gnomAD rs1475365161
- P182L (p.Pro182Leu), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- I183V (p.Ile183Val), rs1241103660, ClinGen CA381392690, ClinVar RCV003031780, TOPMed rs1241103660, REVEL 0.33, CADD 24.30, Uncertain significance, not provided
- N186K (p.Asn186Lys), NCI-TCGA Cosmic COSV5801, cosmic curated COSV58015, Variant assessed as somatic; moderate impact.
- R187C (p.Arg187Cys), NCI-TCGA Cosmic COSV5801, cosmic curated COSV58013, REVEL 0.27, CADD 33.00, Variant assessed as somatic; moderate impact.
- A188V (p.Ala188Val), rs957917859, []
- P189A (p.Pro189Ala), Ensembl rs1393793185, REVEL 0.33, CADD 24.90
- E193K (p.Glu193Lys), rs1308599130, ClinGen CA381391945, ClinVar RCV001989491, TOPMed rs1308599130, REVEL 0.44, CADD 27.40, Uncertain significance, not provided
- E193Q (p.Glu193Gln), TOPMed rs1308599130, gnomAD rs1308599130, REVEL 0.23, CADD 25.90, Uncertain significance
- C197R (p.Cys197Arg), Ensembl rs11606329
- R198* (p.Arg198Ter), rs1326268854, ClinGen CA381391868, cosmic curated COSV58014, ClinVar RCV001092067, Pathogenic
- R198Q (p.Arg198Gln), NCI-TCGA TCGA novel, TOPMed rs1856492299, REVEL 0.49, CADD 29.80, Variant assessed as somatic; moderate impact.
- V199A (p.Val199Ala), rs145138143, ClinGen CA6106838, ClinVar RCV001839219, ClinVar RCV002077325, REVEL 0.34, CADD 27.30, Conflicting interpretations, Mucocutaneous ulceration, chronic; not provided
- R201Q (p.Arg201Gln), ExAC rs755895938, TOPMed rs755895938, gnomAD rs755895938, REVEL 0.26, AlphaMissense 0.95
- S203C (p.Ser203Cys), Ensembl rs1856491874, REVEL 0.18, AlphaMissense 0.63
- S203W (p.Ser203Trp), NCI-TCGA TCGA novel, Variant assessed as somatic; high impact.
- L207F (p.Leu207Phe), TOPMed rs1194237734, gnomAD rs1194237734, Uncertain significance
- L207V (p.Leu207Val), rs1194237734, ClinGen CA381391748, ClinVar RCV001909006, ClinVar RCV005271484, REVEL 0.02, CADD 17.40, Uncertain significance, not specified; not provided
- G208S (p.Gly208Ser), rs2496848762, ClinGen CA381391736, ClinVar RCV003675051, NCI-TCGA Cosmic COSV5801, Uncertain significance, not provided
- D210Y (p.Asp210Tyr), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, Variant assessed as somatic; moderate impact.
- E211D (p.Glu211Asp), NCI-TCGA Cosmic COSV1004, cosmic curated COSV10042, NCI-TCGA Cosmic COSV5801, Variant assessed as somatic; moderate impact.
- E211K (p.Glu211Lys), NCI-TCGA Cosmic COSV5801, cosmic curated COSV58014, Variant assessed as somatic; moderate impact.
- E211Q (p.Glu211Gln), NCI-TCGA Cosmic COSV5801, cosmic curated COSV58015, Variant assessed as somatic; moderate impact.
- C216G (p.Cys216Gly), gnomAD rs1439792199, REVEL 0.67, CADD 31.00
- D217G (p.Asp217Gly), NCI-TCGA TCGA novel, Variant assessed as somatic; moderate impact.
- Q220H (p.Gln220His), cosmic curated COSV10042, TOPMed rs1856491053, Uncertain significance, not provided
Public RELA analysis runs
- RELA analysis run — RELA (977 variants) — completed 2026-08-19