A216V (p.Ala216Val) variant of ITGA2B (Integrin alpha-IIb)
A216V (p.Ala216Val) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
A216V (p.Ala216Val) variant details
- p.Ala216Val
- rs2143485154
- ClinGen CA399805506
- ClinVar RCV001580219
- Ensembl rs2143485154
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.807
- REVEL 0.86
- MetaLR 0.59
- MetaSVM 0.36
- CADD 32.00
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available