Q4Q (p.Gln4Gln) variant of ERCC5 (P28715)
Q4Q (p.Gln4Gln) in ERCC5 (P28715) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
Q4Q (p.Gln4Gln) variant details
- p.Gln4Gln
- gnomAD 13-102846278-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.278
- CADD 12.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available