M1T (p.Met1Thr) variant of XRCC2 (DNA repair protein XRCC2)
M1T (p.Met1Thr) in XRCC2 (DNA repair protein XRCC2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1064793295
- ClinGen CA16618441
- ClinVar RCV002435642
- Likely pathogenic
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- MetaLR 0.11
- MetaSVM -0.91
- PolyPhen-2 0.60
- SIFT 0.00
- MutPred 0.94
- ClinVar: Likely pathogenic (Hereditary cancer-predisposing syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)