F59Y (p.Phe59Tyr) variant of ERCC5 (P28715)
F59Y (p.Phe59Tyr) in ERCC5 (P28715) 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 and structural context.
F59Y (p.Phe59Tyr) variant details
- p.Phe59Tyr
- TOPMed rs1882231314
- Missense
- Variant Prioritization Score for Impact Estimate 0.651
- CADD 27.10
- PolyPhen-2 0.83
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available