E133D (p.Glu133Asp) variant of SHTN1 (Shootin-1)
E133D (p.Glu133Asp) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
E133D (p.Glu133Asp) variant details
- p.Glu133Asp
- TOPMed rs1245172658
- gnomAD rs1245172658
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -1.03
- CADD 14.20
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available