R685T (p.Arg685Thr) variant of FANCA (Fanconi anemia group A protein)
R685T (p.Arg685Thr) 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 0.38 / 1. The record also includes published literature and structural context.
R685T (p.Arg685Thr) variant details
- p.Arg685Thr
- rs1183781456
- ClinGen CA397448578
- ClinVar RCV001256488
- TOPMed rs1183781456
- Pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- AlphaMissense 0.11
- MetaLR 0.29
- MetaSVM -0.66
- PolyPhen-2 0.00
- SIFT 0.99
- EVE 0.16
- ClinVar: Pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Fanconi Anemia. (PMID 20301575)