D5E (p.Asp5Glu) variant of SHTN1 (Shootin-1)
D5E (p.Asp5Glu) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
D5E (p.Asp5Glu) variant details
- p.Asp5Glu
- TOPMed rs1851965970
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 1.00
- Population evidence available
- Structural context available