E164G (p.Glu164Gly) variant of SHTN1 (Shootin-1)
E164G (p.Glu164Gly) in SHTN1 (Shootin-1) is a missense change. 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.
E164G (p.Glu164Gly) variant details
- p.Glu164Gly
- Ensembl rs2133421869
- Missense
- Variant Prioritization Score for Impact Estimate 0.425
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.23
- MetaLR 0.55
- MetaSVM 0.09
- CADD 27.10
- Population evidence available
- Structural context available