L6L (p.Leu6Leu) variant of ERCC5 (P28715)
L6L (p.Leu6Leu) in ERCC5 (P28715) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
L6L (p.Leu6Leu) variant details
- p.Leu6Leu
- gnomAD 13-102846284-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.164
- CADD 11.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available