A70E (p.Ala70Glu) variant of ITGB4 (Integrin beta-4)
A70E (p.Ala70Glu) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A70E (p.Ala70Glu) variant details
- p.Ala70Glu
- ExAC rs747831589
- TOPMed rs747831589
- gnomAD rs747831589
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.31
- CADD 12.30
- PolyPhen-2 0.13
- SIFT 0.59
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available