A43V (p.Ala43Val) variant of FAN1 (Fanconi-associated nuclease 1)
A43V (p.Ala43Val) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- gnomAD 15-30904791-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.45
- CADD 25.50
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available