I31V (p.Ile31Val) variant of FAN1 (Fanconi-associated nuclease 1)
I31V (p.Ile31Val) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
I31V (p.Ile31Val) variant details
- p.Ile31Val
- gnomAD 15-30904754-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0753
- REVEL 0.08
- CADD 0.26
- PolyPhen-2 0.00
- SIFT 0.55
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available