G159V (p.Gly159Val) variant of ITGA2B (Integrin alpha-IIb)
G159V (p.Gly159Val) 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 0.82 / 1. The record also includes structural context.
G159V (p.Gly159Val) variant details
- p.Gly159Val
- rs2048641442
- ClinGen CA399805900
- ClinVar RCV001254663
- Ensembl rs2048641442
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.821
- AlphaMissense 0.96
- MetaLR 0.74
- MetaSVM 0.67
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.88
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available