L58F (p.Leu58Phe) variant of ERCC5 (P28715)
L58F (p.Leu58Phe) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
L58F (p.Leu58Phe) variant details
- p.Leu58Phe
- ExAC rs749572902
- TOPMed rs749572902
- gnomAD rs749572902
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available