A132P (p.Ala132Pro) variant of SHTN1 (Shootin-1)
A132P (p.Ala132Pro) in SHTN1 (Shootin-1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
A132P (p.Ala132Pro) variant details
- p.Ala132Pro
- ExAC rs761373972
- TOPMed rs761373972
- gnomAD rs761373972
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- ESM-1b 0.00
- AlphaMissense 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available