E44Q (p.Glu44Gln) variant of SHTN1 (Shootin-1)
E44Q (p.Glu44Gln) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
E44Q (p.Glu44Gln) variant details
- p.Glu44Gln
- TOPMed rs1266359126
- gnomAD rs1266359126
- Missense
- Variant Prioritization Score for Impact Estimate 0.588
- REVEL 0.38
- ESM-1b 1.00
- AlphaMissense 0.39
- CADD 25.70
- PolyPhen-2 0.99
- SIFT 0.09
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available