S40W (p.Ser40Trp) variant of ERCC3 (P19447)
S40W (p.Ser40Trp) 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 0.63 / 1. The record also includes structural context.
S40W (p.Ser40Trp) variant details
- p.Ser40Trp
- TOPMed rs1251238422
- gnomAD rs1251238422
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.626
- ESM-1b 0.88
- AlphaMissense 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available