D1129V (p.Asp1129Val) variant of FANCA (Fanconi anemia group A protein)
D1129V (p.Asp1129Val) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes published literature and structural context.
D1129V (p.Asp1129Val) variant details
- p.Asp1129Val
- rs2038408351
- ClinGen CA397486086
- cosmic curated COSV10461
- ClinVar RCV001256286
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- AlphaMissense 0.40
- MetaLR 0.67
- MetaSVM 0.23
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)