R44H (p.Arg44His) variant of IAPP (Islet amyloid polypeptide)
R44H (p.Arg44His) in IAPP (Islet amyloid polypeptide) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
R44H (p.Arg44His) variant details
- p.Arg44His
- cosmic curated COSV53713
- ExAC rs773900669
- TOPMed rs773900669
- gnomAD rs773900669
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.13
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.03
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available