E75K (p.Glu75Lys) variant of ITGB4 (Integrin beta-4)
E75K (p.Glu75Lys) in ITGB4 (Integrin beta-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
E75K (p.Glu75Lys) variant details
- p.Glu75Lys
- TOPMed rs2060745360
- Missense
- Variant Prioritization Score for Impact Estimate 0.32
- REVEL 0.26
- CADD 14.20
- PolyPhen-2 0.12
- SIFT 0.35
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available