T52I (p.Thr52Ile) variant of XRCC2 (DNA repair protein XRCC2)
T52I (p.Thr52Ile) in XRCC2 (DNA repair protein XRCC2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
T52I (p.Thr52Ile) variant details
- p.Thr52Ile
- 1000Genomes rs530663304
- ExAC rs530663304
- gnomAD rs530663304
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.41
- MetaLR 0.41
- MetaSVM -0.17
- CADD 24.70
- PolyPhen-2 0.76
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available