D45G (p.Asp45Gly) variant of ITGB4 (Integrin beta-4)
D45G (p.Asp45Gly) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
D45G (p.Asp45Gly) variant details
- p.Asp45Gly
- TOPMed rs1254788907
- gnomAD rs1254788907
- Missense
- Variant Prioritization Score for Impact Estimate 0.226
- REVEL 0.17
- CADD 22.90
- PolyPhen-2 0.01
- SIFT 0.72
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available