T52R (p.Thr52Arg) variant of XRCC2 (DNA repair protein XRCC2)
T52R (p.Thr52Arg) 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 record also includes variant effect predictions, population frequency data, and structural context.
T52R (p.Thr52Arg) variant details
- p.Thr52Arg
- 1000Genomes rs530663304
- ExAC rs530663304
- gnomAD rs530663304
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- MetaLR 0.53
- MetaSVM 0.17
- SIFT 0.01
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available