R88Q (p.Arg88Gln) variant of ERCC2 (P18074)
R88Q (p.Arg88Gln) 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 0.52 / 1. The record also includes population frequency data and structural context.
R88Q (p.Arg88Gln) variant details
- p.Arg88Gln
- rs777095373
- ClinGen CA9513843
- NCI-TCGA Cosmic COSV5554
- cosmic curated COSV55544
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.36
- CADD 23.50
- PolyPhen-2 0.21
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available