S18G (p.Ser18Gly) variant of ERCC5 (P28715)
S18G (p.Ser18Gly) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
S18G (p.Ser18Gly) variant details
- p.Ser18Gly
- gnomAD 13-102846318-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- CADD 23.50
- PolyPhen-2 0.33
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available