A21G (p.Ala21Gly) variant of ERCC5 (P28715)
A21G (p.Ala21Gly) in ERCC5 (P28715) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes structural context.
A21G (p.Ala21Gly) variant details
- p.Ala21Gly
- rs2140511625
- ClinGen CA388565148
- ClinVar RCV003237535
- Ensembl rs2140511625
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- AlphaMissense 0.15
- MetaLR 0.24
- MetaSVM -0.60
- PolyPhen-2 0.38
- SIFT 0.00
- MutPred 0.52
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available