A10V (p.Ala10Val) variant of ITGA2B (Integrin alpha-IIb)
A10V (p.Ala10Val) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A10V (p.Ala10Val) variant details
- p.Ala10Val
- rs749730990
- ExAC rs749730990
- TOPMed rs749730990
- gnomAD rs749730990
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.24
- MetaLR 0.69
- MetaSVM -0.07
- CADD 6.82
- PolyPhen-2 0.00
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available