Q95H (p.Gln95His) variant of ITGA2B (Integrin alpha-IIb)
Q95H (p.Gln95His) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
Q95H (p.Gln95His) variant details
- p.Gln95His
- TOPMed rs1170385270
- gnomAD rs1170385270
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.25
- MetaLR 0.43
- MetaSVM -0.49
- CADD 11.20
- PolyPhen-2 0.16
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available