E75D (p.Glu75Asp) variant of ITGB4 (Integrin beta-4)
E75D (p.Glu75Asp) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
E75D (p.Glu75Asp) variant details
- p.Glu75Asp
- gnomAD 17-75727466-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.15
- CADD 12.70
- PolyPhen-2 0.21
- SIFT 0.36
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available
- Literature evidence available