A65V (p.Ala65Val) variant of ITGA2B (Integrin alpha-IIb)
A65V (p.Ala65Val) 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 0.24 / 1. The record also includes population frequency data and structural context.
A65V (p.Ala65Val) variant details
- p.Ala65Val
- rs1009231553
- Ensembl rs1009231553
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.235
- REVEL 0.14
- MetaLR 0.17
- MetaSVM -0.83
- CADD 21.60
- PolyPhen-2 0.03
- SIFT 0.04
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available