T52M (p.Thr52Met) variant of XRCC3 (DNA repair protein XRCC3)
T52M (p.Thr52Met) in XRCC3 (DNA repair protein XRCC3) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
T52M (p.Thr52Met) variant details
- p.Thr52Met
- 1000Genomes rs117761689
- ExAC rs117761689
- TOPMed rs117761689
- gnomAD rs117761689
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.21
- CADD 23.60
- PolyPhen-2 0.63
- SIFT 0.02
- Most common in the 1KG:LWK population (allele frequency 0.0059)
- Structural context available