A58S (p.Ala58Ser) variant of ERCC3 (P19447)
A58S (p.Ala58Ser) in ERCC3 (P19447) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes structural context.
A58S (p.Ala58Ser) variant details
- p.Ala58Ser
- rs587778277
- ClinGen CA348392117
- ClinVar RCV002222862
- Ensembl rs587778277
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- ESM-1b 0.00
- AlphaMissense 0.76
- MetaLR 0.22
- MetaSVM -0.76
- PolyPhen-2 0.27
- SIFT 0.29
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available