Y94S (p.Tyr94Ser) variant of ERCC2 (P18074)
Y94S (p.Tyr94Ser) in ERCC2 (P18074) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
Y94S (p.Tyr94Ser) variant details
- p.Tyr94Ser
- ESP rs372410769
- ExAC rs372410769
- TOPMed rs372410769
- gnomAD rs372410769
- Missense
- Variant Prioritization Score for Impact Estimate 0.5
- REVEL 0.43
- CADD 22.80
- PolyPhen-2 0.03
- SIFT 0.31
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available