A33T (p.Ala33Thr) variant of XRCC2 (DNA repair protein XRCC2)
A33T (p.Ala33Thr) 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 Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
A33T (p.Ala33Thr) variant details
- p.Ala33Thr
- rs774296079
- ClinGen CA370199444
- ClinVar RCV002387234
- ClinVar RCV003103619
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.322
- AlphaMissense 0.08
- MetaLR 0.10
- MetaSVM -1.02
- PolyPhen-2 0.01
- SIFT 0.32
- EVE 0.24
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)