E20K (p.Glu20Lys) variant of ERCC5 (P28715)
E20K (p.Glu20Lys) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
E20K (p.Glu20Lys) variant details
- p.Glu20Lys
- ExAC rs761699560
- TOPMed rs761699560
- gnomAD rs761699560
- Missense
- Variant Prioritization Score for Impact Estimate 0.817
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 6e-05)
- Structural context available