C63F (p.Cys63Phe) variant of ERCC5 (P28715)
C63F (p.Cys63Phe) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
C63F (p.Cys63Phe) variant details
- p.Cys63Phe
- gnomAD 13-102852217-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- CADD 29.10
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available