G47D (p.Gly47Asp) variant of ITGA2B (Integrin alpha-IIb)
G47D (p.Gly47Asp) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
G47D (p.Gly47Asp) variant details
- p.Gly47Asp
- ESP rs376817155
- ExAC rs376817155
- TOPMed rs376817155
- gnomAD rs376817155
- Missense
- Variant Prioritization Score for Impact Estimate 0.382
- REVEL 0.42
- MetaLR 0.56
- MetaSVM -0.25
- CADD 16.50
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available