K40Q (p.Lys40Gln) variant of ERCC5 (P28715)
K40Q (p.Lys40Gln) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
K40Q (p.Lys40Gln) variant details
- p.Lys40Gln
- TOPMed rs1384929710
- gnomAD rs1384929710
- Missense
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 25.90
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available