N18K (p.Asn18Lys) variant of IAPP (Islet amyloid polypeptide)
N18K (p.Asn18Lys) in IAPP (Islet amyloid polypeptide) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N18K (p.Asn18Lys) variant details
- p.Asn18Lys
- TOPMed rs987849270
- gnomAD rs987849270
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.04
- CADD 7.85
- PolyPhen-2 0.09
- SIFT 0.21
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available