P19S (p.Pro19Ser) variant of ERCC5 (P28715)
P19S (p.Pro19Ser) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
P19S (p.Pro19Ser) variant details
- p.Pro19Ser
- Ensembl rs2140511603
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 25.10
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available