T52A (p.Thr52Ala) variant of XRCC2 (DNA repair protein XRCC2)
T52A (p.Thr52Ala) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T52A (p.Thr52Ala) variant details
- p.Thr52Ala
- rs2485882120
- ClinGen CA370199308
- NCI-TCGA Cosmic COSV1008
- ClinVar RCV003832198
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.18
- MetaLR 0.23
- MetaSVM -0.74
- CADD 23.00
- PolyPhen-2 0.47
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available