Q16Q (p.Gln16Gln) variant of ERCC5 (P28715)
Q16Q (p.Gln16Gln) in ERCC5 (P28715) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
Q16Q (p.Gln16Gln) variant details
- p.Gln16Gln
- rs202038276
- gnomAD 13-102846314-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.266
- CADD 15.10
- Most common in the Ashkenazi Jewish population (allele frequency 0.0023)
- Structural context available
- Literature evidence available