E76K (p.Glu76Lys) variant of SHTN1 (Shootin-1)
E76K (p.Glu76Lys) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
E76K (p.Glu76Lys) variant details
- p.Glu76Lys
- gnomAD rs1268953899
- Missense
- Variant Prioritization Score for Impact Estimate 0.996
- ESM-1b 1.00
- AlphaMissense 0.99
- Structural context available