D81H (p.Asp81His) variant of ERCC3 (P19447)
D81H (p.Asp81His) 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 0.88 / 1. The record also includes population frequency data and structural context.
D81H (p.Asp81His) variant details
- p.Asp81His
- TOPMed rs1453017999
- gnomAD rs1453017999
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.95
- CADD 27.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available