Q254R (p.Gln254Arg) variant of ITGB3 (Integrin beta-3)
Q254R (p.Gln254Arg) in ITGB3 (Integrin beta-3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Glanzmann thrombasthenia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.97 / 1. The record also includes structural context.
Q254R (p.Gln254Arg) variant details
- p.Gln254Arg
- rs1598690979
- ClinGen CA400023678
- ClinVar RCV000851871
- Ensembl rs1598690979
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.973
- AlphaMissense 0.98
- MetaLR 0.96
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available