R104G (p.Arg104Gly) variant of ITGA2B (Integrin alpha-IIb)
R104G (p.Arg104Gly) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
R104G (p.Arg104Gly) variant details
- p.Arg104Gly
- ExAC rs759912238
- gnomAD rs759912238
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.22
- MetaLR 0.38
- MetaSVM -0.83
- CADD 14.20
- PolyPhen-2 0.02
- SIFT 0.33
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available