R72W (p.Arg72Trp) variant of ITGA2B (Integrin alpha-IIb)
R72W (p.Arg72Trp) in ITGA2B (Integrin alpha-IIb) is a missense change. Clinical records from ClinVar 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 0.41 / 1. The record also includes population frequency data and structural context.
R72W (p.Arg72Trp) variant details
- p.Arg72Trp
- gnomAD rs1174805526
- Uncertain significance
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.412
- REVEL 0.40
- MetaLR 0.72
- MetaSVM 0.27
- CADD 23.90
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (Glanzmann thrombasthenia)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available