V138L (p.Val138Leu) variant of SHTN1 (Shootin-1)
V138L (p.Val138Leu) 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.
V138L (p.Val138Leu) variant details
- p.Val138Leu
- TOPMed rs1849886749
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- ESM-1b 0.00
- AlphaMissense 0.08
- Structural context available