A70V (p.Ala70Val) variant of ITGA2B (Integrin alpha-IIb)
A70V (p.Ala70Val) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
A70V (p.Ala70Val) variant details
- p.Ala70Val
- rs2510085551
- ClinGen CA399806504
- ClinVar RCV003870546
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- REVEL 0.80
- MetaLR 0.88
- MetaSVM 0.95
- CADD 28.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.1e-05)
- Structural context available