H51D (p.His51Asp) variant of IAPP (Islet amyloid polypeptide)
H51D (p.His51Asp) in IAPP (Islet amyloid polypeptide) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
H51D (p.His51Asp) variant details
- p.His51Asp
- ESP rs369714240
- ExAC rs369714240
- TOPMed rs369714240
- gnomAD rs369714240
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.17
- AlphaMissense 0.10
- MetaLR 0.04
- MetaSVM -1.03
- CADD 20.60
- PolyPhen-2 0.24
- Most common in the Middle Eastern population (allele frequency 0.00035)
- Structural context available