R121H (p.Arg121His) variant of ITGA2B (Integrin alpha-IIb)
R121H (p.Arg121His) 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 ITGA2B-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R121H (p.Arg121His) variant details
- p.Arg121His
- gnomAD rs866742833
- Uncertain significance
- ITGA2B-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.28
- REVEL 0.23
- MetaLR 0.26
- MetaSVM -0.76
- CADD 17.30
- PolyPhen-2 0.06
- SIFT 0.90
- ClinVar: Uncertain significance (ITGA2B-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available