W22R (p.Trp22Arg) variant of FANCA (Fanconi anemia group A protein)
W22R (p.Trp22Arg) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
W22R (p.Trp22Arg) variant details
- p.Trp22Arg
- Ensembl rs2143730974
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.30
- CADD 24.90
- PolyPhen-2 0.92
- SIFT 0.00
- Population evidence available
- Structural context available