S18S (p.Ser18Ser) variant of ERCC5 (P28715)
S18S (p.Ser18Ser) in ERCC5 (P28715) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
S18S (p.Ser18Ser) variant details
- p.Ser18Ser
- rs201240143
- gnomAD 13-102846320-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.54
- CADD 15.20
- Most common in the 1KG:JPT population (allele frequency 0.0049)
- Structural context available
- Literature evidence available