M25R (p.Met25Arg) variant of ERCC2 (P18074)
M25R (p.Met25Arg) in ERCC2 (P18074) 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 0.92 / 1. The record also includes structural context.
M25R (p.Met25Arg) variant details
- p.Met25Arg
- rs2123319234
- ClinGen CA406379896
- ClinVar RCV002046337
- Ensembl rs2123319234
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 1.03
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.92
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available