R125G (p.Arg125Gly) variant of ERCC2 (P18074)
R125G (p.Arg125Gly) in ERCC2 (P18074) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R125G (p.Arg125Gly) variant details
- p.Arg125Gly
- ESP rs372425466
- ExAC rs372425466
- TOPMed rs372425466
- gnomAD rs372425466
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.53
- CADD 23.20
- PolyPhen-2 0.04
- SIFT 0.32
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available