L55F (p.Leu55Phe) variant of ERCC5 (P28715)
L55F (p.Leu55Phe) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
L55F (p.Leu55Phe) variant details
- p.Leu55Phe
- TOPMed rs977942010
- gnomAD rs977942010
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- CADD 26.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available