V67M (p.Val67Met) variant of ITGA2B (Integrin alpha-IIb)
V67M (p.Val67Met) 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 0.65 / 1. The record also includes population frequency data and structural context.
V67M (p.Val67Met) variant details
- p.Val67Met
- rs2510085573
- ClinGen CA399806525
- ClinVar RCV003093236
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.646
- REVEL 0.59
- MetaLR 0.82
- MetaSVM 0.78
- CADD 27.20
- PolyPhen-2 1.00
- SIFT 0.02
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available