R88G (p.Arg88Gly) variant of ERCC2 (P18074)
R88G (p.Arg88Gly) in ERCC2 (P18074) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
R88G (p.Arg88Gly) variant details
- p.Arg88Gly
- ExAC rs748842373
- TOPMed rs748842373
- gnomAD rs748842373
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.55
- CADD 23.50
- PolyPhen-2 0.12
- SIFT 0.06
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available