V129I (p.Val129Ile) variant of ITGA2B (Integrin alpha-IIb)
V129I (p.Val129Ile) in ITGA2B (Integrin alpha-IIb) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
V129I (p.Val129Ile) variant details
- p.Val129Ile
- TOPMed rs1351877826
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.16
- MetaLR 0.25
- MetaSVM -0.68
- CADD 17.90
- PolyPhen-2 0.04
- SIFT 0.40
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available