A8T (p.Ala8Thr) variant of XRCC2 (DNA repair protein XRCC2)
A8T (p.Ala8Thr) in XRCC2 (DNA repair protein XRCC2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- rs2098040942
- ClinGen CA370199605
- ClinVar RCV001299241
- ClinVar RCV004951462
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.287
- REVEL 0.03
- MetaLR 0.11
- MetaSVM -0.99
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 0.12
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)