S27Y (p.Ser27Tyr) variant of FAN1 (Fanconi-associated nuclease 1)
S27Y (p.Ser27Tyr) in FAN1 (Fanconi-associated nuclease 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S27Y (p.Ser27Tyr) variant details
- p.Ser27Tyr
- gnomAD 15-30904743-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- REVEL 0.13
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Literature evidence available