E116G (p.Glu116Gly) variant of SHTN1 (Shootin-1)
E116G (p.Glu116Gly) 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 0.43 / 1. The record also includes population frequency data and structural context.
E116G (p.Glu116Gly) variant details
- p.Glu116Gly
- ExAC rs764355045
- TOPMed rs764355045
- gnomAD rs764355045
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.22
- ESM-1b 0.45
- AlphaMissense 0.32
- MetaLR 0.84
- MetaSVM 0.68
- CADD 25.50
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available