E7E (p.Glu7Glu) variant of SPTBN4 (Q9H254)
E7E (p.Glu7Glu) in SPTBN4 (Q9H254) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
E7E (p.Glu7Glu) variant details
- p.Glu7Glu
- rs749068938
- gnomAD 19-40472642-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.55
- CADD 8.84
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available