G20D (p.Gly20Asp) variant of XRCC2 (DNA repair protein XRCC2)
G20D (p.Gly20Asp) in XRCC2 (DNA repair protein XRCC2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of XRCC2-related disorder; not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
G20D (p.Gly20Asp) variant details
- p.Gly20Asp
- rs1369229971
- ClinGen CA370199527
- ClinVar RCV001217794
- ClinVar RCV002356926
- Uncertain significance
- XRCC2-related disorder; not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.12
- MetaLR 0.15
- MetaSVM -0.91
- CADD 21.90
- PolyPhen-2 0.06
- SIFT 0.02
- ClinVar: Uncertain significance (XRCC2-related disorder; not provided; Hereditary cancer-predispo)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)