Q43* (p.Gln43Ter) variant of IAPP (Islet amyloid polypeptide)
Q43* (p.Gln43Ter) in IAPP (Islet amyloid polypeptide) 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.
Q43* (p.Gln43Ter) variant details
- p.Gln43Ter
- Ensembl rs1940353165
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.795
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available