H28R (p.His28Arg) variant of IAPP (Islet amyloid polypeptide)
H28R (p.His28Arg) in IAPP (Islet amyloid polypeptide) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
H28R (p.His28Arg) variant details
- p.His28Arg
- ExAC rs749463838
- gnomAD rs749463838
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.10
- CADD 17.50
- PolyPhen-2 0.04
- SIFT 0.03
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available