R61* (p.Arg61Ter) variant of ERCC2 (P18074)
R61* (p.Arg61Ter) in ERCC2 (P18074) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes structural context.
R61* (p.Arg61Ter) variant details
- p.Arg61Ter
- rs1420151470
- ClinGen CA406379379
- ClinVar RCV003550391
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.395
- AlphaMissense 0.20
- MetaLR 0.31
- MetaSVM -0.71
- PolyPhen-2 0.02
- SIFT 0.21
- EVE 0.30
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available