P29T (p.Pro29Thr) variant of XRCC2 (DNA repair protein XRCC2)
P29T (p.Pro29Thr) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes published literature and structural context.
P29T (p.Pro29Thr) variant details
- p.Pro29Thr
- rs2098032742
- ClinGen CA370199470
- ClinVar RCV004521393
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- AlphaMissense 0.22
- MetaLR 0.19
- MetaSVM -0.82
- PolyPhen-2 0.77
- SIFT 0.02
- EVE 0.50
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- 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)