K8K (p.Lys8Lys) variant of ERCC5 (P28715)
K8K (p.Lys8Lys) in ERCC5 (P28715) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and published literature.
K8K (p.Lys8Lys) variant details
- p.Lys8Lys
- gnomAD 13-102846290-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 13.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available