E47D (p.Glu47Asp) variant of SHTN1 (Shootin-1)
E47D (p.Glu47Asp) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes structural context.
E47D (p.Glu47Asp) variant details
- p.Glu47Asp
- ESP rs372390565
- ExAC rs372390565
- TOPMed rs372390565
- gnomAD rs372390565
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.15
- SIFT 0.03
- Structural context available