V8E (p.Val8Glu) variant of SPTBN4 (Q9H254)
V8E (p.Val8Glu) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
V8E (p.Val8Glu) variant details
- p.Val8Glu
- ExAC rs771031613
- gnomAD rs771031613
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- CADD 24.10
- PolyPhen-2 0.37
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available