K158E (p.Lys158Glu) variant of SHTN1 (Shootin-1)
K158E (p.Lys158Glu) in SHTN1 (Shootin-1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes structural context.
K158E (p.Lys158Glu) variant details
- p.Lys158Glu
- TOPMed rs1328457117
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.684
- ESM-1b 1.00
- AlphaMissense 0.30
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Structural context available