P7L (p.Pro7Leu) variant of FAN1 (Fanconi-associated nuclease 1)
P7L (p.Pro7Leu) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P7L (p.Pro7Leu) variant details
- p.Pro7Leu
- gnomAD 15-30904683-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.24
- CADD 19.60
- PolyPhen-2 0.08
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available