A2T (p.Ala2Thr) variant of ARID1A (O14497)
A2T (p.Ala2Thr) in ARID1A (O14497) 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 0.29 / 1. The record also includes population frequency data and structural context.
A2T (p.Ala2Thr) variant details
- p.Ala2Thr
- rs1333869920
- ClinGen CA339264182
- ClinVar RCV002288160
- TOPMed rs1333869920
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.05
- MetaLR 0.01
- MetaSVM -0.88
- CADD 23.60
- PolyPhen-2 0.19
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available