Y11H (p.Tyr11His) variant of ERCC2 (P18074)
Y11H (p.Tyr11His) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
Y11H (p.Tyr11His) variant details
- p.Tyr11His
- ExAC rs777490688
- TOPMed rs777490688
- gnomAD rs777490688
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.31
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available