A8T (p.Ala8Thr) variant of ARID1A (O14497)
A8T (p.Ala8Thr) 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; Intellectual disability, autosomal dominant 14. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- rs1296885198
- ClinGen CA339264219
- ClinVar RCV001774362
- ClinVar RCV005415619
- Uncertain significance
- not provided; Intellectual disability, autosomal dominant 14
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.11
- MetaLR 0.01
- MetaSVM -0.64
- CADD 22.00
- PolyPhen-2 0.10
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Intellectual disability, autosomal dominant 14)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available