Q4H (p.Gln4His) variant of ERCC5 (P28715)
Q4H (p.Gln4His) in ERCC5 (P28715) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Q4H (p.Gln4His) variant details
- p.Gln4His
- ExAC rs753121419
- gnomAD rs753121419
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- CADD 21.30
- PolyPhen-2 0.10
- SIFT 0.31
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available