E26D (p.Glu26Asp) variant of SPTBN4 (Q9H254)
E26D (p.Glu26Asp) in SPTBN4 (Q9H254) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
E26D (p.Glu26Asp) variant details
- p.Glu26Asp
- ExAC rs777536882
- gnomAD rs777536882
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 8.1e-06)
- Structural context available