W11R (p.Trp11Arg) variant of ITGB3 (Integrin beta-3)
W11R (p.Trp11Arg) in ITGB3 (Integrin beta-3) 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 0.27 / 1. The record also includes population frequency data and structural context.
W11R (p.Trp11Arg) variant details
- p.Trp11Arg
- rs1022839092
- ClinGen CA291240306
- ClinVar RCV001225262
- ClinVar RCV001360644
- Pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- MetaLR 0.04
- MetaSVM -1.03
- CADD 22.40
- PolyPhen-2 0.03
- SIFT 0.08
- ClinVar: Pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.6e-05)
- Structural context available