S73C (p.Ser73Cys) variant of ERCC3 (P19447)
S73C (p.Ser73Cys) in ERCC3 (P19447) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes structural context.
S73C (p.Ser73Cys) variant details
- p.Ser73Cys
- TOPMed rs1685351270
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.591
- ESM-1b 1.00
- AlphaMissense 0.10
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available