S13F (p.Ser13Phe) variant of ERCC5 (P28715)
S13F (p.Ser13Phe) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
S13F (p.Ser13Phe) variant details
- p.Ser13Phe
- ExAC rs749851993
- TOPMed rs749851993
- gnomAD rs749851993
- Missense
- Variant Prioritization Score for Impact Estimate 0.801
- CADD 27.60
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available