I21L (p.Ile21Leu) variant of SHTN1 (Shootin-1)
I21L (p.Ile21Leu) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes structural context.
I21L (p.Ile21Leu) variant details
- p.Ile21Leu
- ExAC rs779365654
- TOPMed rs779365654
- gnomAD rs779365654
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- ESM-1b 0.00
- AlphaMissense 0.29
- SIFT 0.43
- Structural context available