L65F (p.Leu65Phe) variant of ERCC5 (P28715)
L65F (p.Leu65Phe) in ERCC5 (P28715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
L65F (p.Leu65Phe) variant details
- p.Leu65Phe
- rs776140428
- ClinGen CA7041070
- cosmic curated COSV63244
- ClinVar RCV002572847
- Uncertain significance
- not specified; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 25.70
- PolyPhen-2 0.80
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available