E166Q (p.Glu166Gln) variant of SHTN1 (Shootin-1)
E166Q (p.Glu166Gln) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
E166Q (p.Glu166Gln) variant details
- p.Glu166Gln
- TOPMed rs1219788880
- gnomAD rs1219788880
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.47
- MetaSVM -0.30
- CADD 23.50
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available