L56L (p.Leu56Leu) variant of ERCC5 (P28715)
L56L (p.Leu56Leu) in ERCC5 (P28715) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
L56L (p.Leu56Leu) variant details
- p.Leu56Leu
- gnomAD 13-102852197-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.295
- CADD 9.56
- Most common in the Latino/Admixed American population (allele frequency 4.5e-05)
- Structural context available
- Literature evidence available