E7D (p.Glu7Asp) variant of SPTBN4 (Q9H254)
E7D (p.Glu7Asp) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
E7D (p.Glu7Asp) variant details
- p.Glu7Asp
- ExAC rs749068938
- TOPMed rs749068938
- gnomAD rs749068938
- Missense
- Variant Prioritization Score for Impact Estimate 0.616
- CADD 16.00
- PolyPhen-2 0.62
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available