R951L (p.Arg951Leu) variant of FANCA (Fanconi anemia group A protein)
R951L (p.Arg951Leu) in FANCA (Fanconi anemia group A protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Fanconi anemia complementation group A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
R951L (p.Arg951Leu) variant details
- p.Arg951Leu
- ExAC rs755922289
- TOPMed rs755922289
- gnomAD rs755922289
- Likely pathogenic
- Fanconi anemia complementation group A
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.71
- CADD 32.00
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Likely pathogenic (Fanconi anemia complementation group A)
- EBI: Pathogenic (in dbSNP:rs755546887)
- UniProt: Pathogenic (in dbSNP:rs755546887)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available