A341V (p.Ala341Val) variant of ITGA2B (Integrin alpha-IIb)
A341V (p.Ala341Val) 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 Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
A341V (p.Ala341Val) variant details
- p.Ala341Val
- rs2048616805
- ClinGen CA399804629
- ClinVar RCV001290495
- Ensembl rs2048616805
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.771
- REVEL 0.76
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available