R9S (p.Arg9Ser) variant of ERCC3 (P19447)
R9S (p.Arg9Ser) in ERCC3 (P19447) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
R9S (p.Arg9Ser) variant details
- p.Arg9Ser
- rs1319949323
- TOPMed rs1319949323
- gnomAD rs1319949323
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.57
- CADD 24.50
- PolyPhen-2 0.93
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available