I26M (p.Ile26Met) variant of ERCC5 (P28715)
I26M (p.Ile26Met) 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 0.40 / 1. The record also includes structural context.
I26M (p.Ile26Met) variant details
- p.Ile26Met
- rs766329524
- ClinGen CA388565182
- cosmic curated COSV57281
- ClinVar RCV003237534
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.402
- AlphaMissense 0.32
- MetaLR 0.22
- MetaSVM -0.73
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.56
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available