I26S (p.Ile26Ser) variant of ERCC5 (P28715)
I26S (p.Ile26Ser) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
I26S (p.Ile26Ser) variant details
- p.Ile26Ser
- Ensembl rs2140511653
- Missense
- Variant Prioritization Score for Impact Estimate 0.691
- CADD 32.00
- PolyPhen-2 0.94
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available