D46H (p.Asp46His) variant of SHTN1 (Shootin-1)
D46H (p.Asp46His) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
D46H (p.Asp46His) variant details
- p.Asp46His
- TOPMed rs1850488346
- gnomAD rs1850488346
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.28
- ESM-1b 1.00
- AlphaMissense 0.90
- CADD 24.10
- PolyPhen-2 1.00
- SIFT 0.03
- Most common in the 1KG:YRI population (allele frequency 0.13)
- Structural context available