G321V (p.Gly321Val) variant of ITGA2B (Integrin alpha-IIb)
G321V (p.Gly321Val) 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 0.85 / 1. The record also includes structural context.
G321V (p.Gly321Val) variant details
- p.Gly321Val
- rs2048619898
- ClinGen CA399804765
- ClinVar RCV001290463
- Ensembl rs2048619898
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- AlphaMissense 0.98
- MetaLR 0.79
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.82
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available