D1325H (p.Asp1325His) variant of FANCA (Fanconi anemia group A protein)
D1325H (p.Asp1325His) 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 0.62 / 1. The record also includes published literature and structural context.
D1325H (p.Asp1325His) variant details
- p.Asp1325His
- rs2062069547
- ClinGen CA397484810
- ClinVar RCV001256629
- Ensembl rs2062069547
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.623
- AlphaMissense 0.20
- MetaLR 0.74
- MetaSVM 0.48
- PolyPhen-2 1.00
- SIFT 0.12
- EVE 0.47
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)