D81Y (p.Asp81Tyr) variant of ERCC3 (P19447)
D81Y (p.Asp81Tyr) in ERCC3 (P19447) 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 0.98 / 1. The record also includes structural context.
D81Y (p.Asp81Tyr) variant details
- p.Asp81Tyr
- TOPMed rs1453017999
- gnomAD rs1453017999
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.98
- ESM-1b 1.00
- AlphaMissense 0.96
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available