E178D (p.Glu178Asp) variant of SHTN1 (Shootin-1)
E178D (p.Glu178Asp) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes structural context.
E178D (p.Glu178Asp) variant details
- p.Glu178Asp
- ExAC rs143713311
- TOPMed rs143713311
- gnomAD rs143713311
- Missense
- Variant Prioritization Score for Impact Estimate 0.162
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.14
- MetaLR 0.07
- MetaSVM -1.12
- SIFT 0.33
- Structural context available