Q7* (p.Gln7Ter) variant of IAPP (Islet amyloid polypeptide)
Q7* (p.Gln7Ter) in IAPP (Islet amyloid polypeptide) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
Q7* (p.Gln7Ter) variant details
- p.Gln7Ter
- gnomAD 12-21376333-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 12.20
- Most common in the Ashkenazi Jewish population (allele frequency 0.00012)
- Structural context available
- Literature evidence available