Y11F (p.Tyr11Phe) variant of ERCC2 (P18074)
Y11F (p.Tyr11Phe) in ERCC2 (P18074) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
Y11F (p.Tyr11Phe) variant details
- p.Tyr11Phe
- ExAC rs748033766
- gnomAD rs748033766
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.27
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.42
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available