G44V (p.Gly44Val) variant of ITGA2B (Integrin alpha-IIb)
G44V (p.Gly44Val) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes structural context.
G44V (p.Gly44Val) variant details
- p.Gly44Val
- rs2048678209
- ClinGen CA399806881
- ClinVar RCV001225268
- Ensembl rs2048678209
- Pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.791
- AlphaMissense 0.58
- MetaLR 0.86
- MetaSVM 0.91
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available