L66F (p.Leu66Phe) variant of ERCC5 (P28715)
L66F (p.Leu66Phe) in ERCC5 (P28715) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L66F (p.Leu66Phe) variant details
- p.Leu66Phe
- gnomAD 13-102852224-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.358
- CADD 28.70
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available