G82D (p.Gly82Asp) variant of ITGA2B (Integrin alpha-IIb)
G82D (p.Gly82Asp) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
G82D (p.Gly82Asp) variant details
- p.Gly82Asp
- gnomAD rs1281597026
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.80
- MetaLR 0.89
- MetaSVM 0.98
- CADD 23.90
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available