R33E (p.Arg33Glu) variant of IAPP (Islet amyloid polypeptide)
R33E (p.Arg33Glu) in IAPP (Islet amyloid polypeptide) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R33E (p.Arg33Glu) variant details
- p.Arg33Glu
- rs748128579
- gnomAD 12-21373668-CA-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 12.70
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0014)
- Structural context available
- Literature evidence available