K40E (p.Lys40Glu) variant of ERCC5 (P28715)
K40E (p.Lys40Glu) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
K40E (p.Lys40Glu) variant details
- p.Lys40Glu
- TOPMed rs1384929710
- gnomAD rs1384929710
- Missense
- Variant Prioritization Score for Impact Estimate 0.635
- CADD 27.00
- PolyPhen-2 0.43
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available