F34S (p.Phe34Ser) variant of FAN1 (Fanconi-associated nuclease 1)
F34S (p.Phe34Ser) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
F34S (p.Phe34Ser) variant details
- p.Phe34Ser
- gnomAD 15-30904764-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.652
- REVEL 0.82
- CADD 25.30
- PolyPhen-2 0.50
- SIFT 0.03
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available