D45H (p.Asp45His) variant of ITGB4 (Integrin beta-4)
D45H (p.Asp45His) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
D45H (p.Asp45His) variant details
- p.Asp45His
- ExAC rs750249253
- TOPMed rs750249253
- gnomAD rs750249253
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- REVEL 0.34
- CADD 24.40
- PolyPhen-2 0.86
- SIFT 0.20
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available