T52K (p.Thr52Lys) variant of XRCC2 (DNA repair protein XRCC2)
T52K (p.Thr52Lys) 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 not specified; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
T52K (p.Thr52Lys) variant details
- p.Thr52Lys
- rs530663304
- ClinGen CA4582378
- ClinVar RCV001820452
- ClinVar RCV002397762
- Uncertain significance
- not specified; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.502
- REVEL 0.45
- MetaLR 0.53
- MetaSVM 0.15
- CADD 24.80
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (not specified; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ITU population (allele frequency 0.0049)
- 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)