N18T (p.Asn18Thr) variant of IAPP (Islet amyloid polypeptide)
N18T (p.Asn18Thr) in IAPP (Islet amyloid polypeptide) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
N18T (p.Asn18Thr) variant details
- p.Asn18Thr
- gnomAD 12-21373401-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.366
- CADD 13.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available