L27L (p.Leu27Leu) variant of ERCC5 (P28715)
L27L (p.Leu27Leu) in ERCC5 (P28715) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L27L (p.Leu27Leu) variant details
- p.Leu27Leu
- rs1016196215
- gnomAD 13-102846345-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.582
- CADD 14.80
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available