G12V (p.Gly12Val) variant of FANCA (Fanconi anemia group A protein)
G12V (p.Gly12Val) in FANCA (Fanconi anemia group A protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- TOPMed rs899666953
- gnomAD rs899666953
- Missense
- Variant Prioritization Score for Impact Estimate 0.146
- REVEL 0.19
- CADD 4.38
- PolyPhen-2 0.00
- SIFT 0.22
- Population evidence available
- Structural context available