D127E (p.Asp127Glu) variant of SHTN1 (Shootin-1)
D127E (p.Asp127Glu) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
D127E (p.Asp127Glu) variant details
- p.Asp127Glu
- ExAC rs754333071
- gnomAD rs754333071
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- Structural context available