R551W (p.Arg551Trp) variant of ITGA2B (Integrin alpha-IIb)
R551W (p.Arg551Trp) 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 0.60 / 1. The record also includes population frequency data and structural context.
R551W (p.Arg551Trp) variant details
- p.Arg551Trp
- rs1261397461
- ClinGen CA399802348
- NCI-TCGA Cosmic COSV5223
- ClinVar RCV001225283
- Pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.78
- CADD 26.00
- 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 1.5e-05)
- Structural context available