A43V (p.Ala43Val) variant of ITGA2B (Integrin alpha-IIb)
A43V (p.Ala43Val) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of ITGA2B-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
A43V (p.Ala43Val) variant details
- p.Ala43Val
- rs559994522
- ClinGen CA8603537
- ClinVar RCV004548927
- 1000Genomes rs559994522
- Uncertain significance
- ITGA2B-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.31
- MetaLR 0.35
- MetaSVM -0.73
- CADD 21.70
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Uncertain significance (ITGA2B-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available