D250G (p.Asp250Gly) variant of ITGB3 (Integrin beta-3)
D250G (p.Asp250Gly) 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.
D250G (p.Asp250Gly) variant details
- p.Asp250Gly
- rs1057518838
- ClinGen CA16043530
- ClinVar RCV000415046
- ClinVar RCV001197460
- Likely pathogenic
- Glanzmann thrombasthenia
- Missense
- Variant Prioritization Score for Impact Estimate 0.965
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.97
- ClinVar: Likely pathogenic (Glanzmann thrombasthenia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available