A41G (p.Ala41Gly) variant of ERCC3 (P19447)
A41G (p.Ala41Gly) 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 0.23 / 1. The record also includes structural context.
A41G (p.Ala41Gly) variant details
- p.Ala41Gly
- TOPMed rs1239018301
- gnomAD rs1239018301
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- ESM-1b 0.00
- AlphaMissense 0.45
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available