R20G (p.Arg20Gly) variant of FANCA (Fanconi anemia group A protein)
R20G (p.Arg20Gly) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
R20G (p.Arg20Gly) variant details
- p.Arg20Gly
- Ensembl rs2143731084
- Missense
- Variant Prioritization Score for Impact Estimate 0.372
- REVEL 0.30
- CADD 24.10
- PolyPhen-2 0.52
- SIFT 0.02
- Population evidence available
- Structural context available