L22Q (p.Leu22Gln) variant of ERCC5 (P28715)
L22Q (p.Leu22Gln) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
L22Q (p.Leu22Gln) variant details
- p.Leu22Gln
- gnomAD rs1396039188
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available