Y94C (p.Tyr94Cys) variant of ERCC2 (P18074)
Y94C (p.Tyr94Cys) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
Y94C (p.Tyr94Cys) variant details
- p.Tyr94Cys
- ESP rs372410769
- ExAC rs372410769
- TOPMed rs372410769
- gnomAD rs372410769
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.49
- CADD 23.20
- PolyPhen-2 0.01
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available