Q32H (p.Gln32His) variant of SHTN1 (Shootin-1)
Q32H (p.Gln32His) in SHTN1 (Shootin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
Q32H (p.Gln32His) variant details
- p.Gln32His
- ExAC rs761679868
- TOPMed rs761679868
- gnomAD rs761679868
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 26.30
- SIFT 0.03
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available