Q113H (p.Gln113His) variant of ITGA2B (Integrin alpha-IIb)
Q113H (p.Gln113His) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
Q113H (p.Gln113His) variant details
- p.Gln113His
- 1000Genomes rs570618729
- ExAC rs570618729
- gnomAD rs570618729
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.18
- MetaLR 0.35
- MetaSVM -0.83
- CADD 8.47
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available