D120G (p.Asp120Gly) variant of SHTN1 (Shootin-1)
D120G (p.Asp120Gly) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
D120G (p.Asp120Gly) variant details
- p.Asp120Gly
- TOPMed rs1447174401
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.85
- MetaSVM 0.81
- CADD 26.50
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available