R551Q (p.Arg551Gln) variant of ITGA2B (Integrin alpha-IIb)
R551Q (p.Arg551Gln) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
R551Q (p.Arg551Gln) variant details
- p.Arg551Gln
- rs769405222
- ClinGen CA8602986
- NCI-TCGA Cosmic COSV5223
- NCI-TCGA Cosmic COSV9928
- Pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.761
- REVEL 0.74
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available