D243H (p.Asp243His) variant of ITGB3 (Integrin beta-3)
D243H (p.Asp243His) 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 0.87 / 1. The record also includes population frequency data and structural context.
D243H (p.Asp243His) variant details
- p.Asp243His
- rs1598690937
- ClinGen CA400023600
- ClinVar RCV000985156
- ClinVar RCV004761848
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.865
- MetaLR 0.96
- MetaSVM 1.10
- CADD 29.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Pathogenic (in GT2)
- UniProt: Pathogenic (in GT2)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available