R6W (p.Arg6Trp) variant of ITGB3 (Integrin beta-3)
R6W (p.Arg6Trp) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R6W (p.Arg6Trp) variant details
- p.Arg6Trp
- rs752525603
- ClinGen CA8622827
- ClinVar RCV001127479
- ClinVar RCV002556788
- Uncertain significance
- not provided; Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- MetaLR 0.04
- MetaSVM -1.05
- CADD 13.10
- PolyPhen-2 0.00
- SIFT 0.03
- ClinVar: Uncertain significance (not provided; Glanzmann thrombasthenia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.00033)
- Structural context available