Q19* (p.Gln19Ter) variant of SHTN1 (Shootin-1)
Q19* (p.Gln19Ter) in SHTN1 (Shootin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
Q19* (p.Gln19Ter) variant details
- p.Gln19Ter
- gnomAD rs1026143235
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.803
- CADD 38.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available