H19R (p.His19Arg) variant of IAPP (Islet amyloid polypeptide)
H19R (p.His19Arg) in IAPP (Islet amyloid polypeptide) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
H19R (p.His19Arg) variant details
- p.His19Arg
- cosmic curated COSV53712
- TOPMed rs1279799238
- gnomAD rs1279799238
- Missense
- Variant Prioritization Score for Impact Estimate 0.145
- REVEL 0.12
- CADD 5.57
- PolyPhen-2 0.00
- SIFT 0.23
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available