R14G (p.Arg14Gly) variant of FAN1 (Fanconi-associated nuclease 1)
R14G (p.Arg14Gly) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R14G (p.Arg14Gly) variant details
- p.Arg14Gly
- gnomAD 15-30904703-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- REVEL 0.32
- CADD 22.40
- PolyPhen-2 0.33
- SIFT 0.01
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available