V134I (p.Val134Ile) variant of ITGA2B (Integrin alpha-IIb)
V134I (p.Val134Ile) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
V134I (p.Val134Ile) variant details
- p.Val134Ile
- ESP rs370013826
- ExAC rs370013826
- TOPMed rs370013826
- gnomAD rs370013826
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.22
- MetaLR 0.34
- MetaSVM -0.78
- CADD 6.65
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available