F67S (p.Phe67Ser) variant of ERCC5 (P28715)
F67S (p.Phe67Ser) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
F67S (p.Phe67Ser) variant details
- p.Phe67Ser
- ExAC rs761224800
- gnomAD rs761224800
- Missense
- Variant Prioritization Score for Impact Estimate 0.589
- AlphaMissense 0.90
- MetaLR 0.35
- MetaSVM -0.38
- CADD 31.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available