P52L (p.Pro52Leu) variant of FAN1 (Fanconi-associated nuclease 1)
P52L (p.Pro52Leu) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
P52L (p.Pro52Leu) variant details
- p.Pro52Leu
- gnomAD 15-30904818-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.40
- CADD 22.40
- PolyPhen-2 0.10
- SIFT 0.04
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available