Q43R (p.Gln43Arg) variant of IAPP (Islet amyloid polypeptide)
Q43R (p.Gln43Arg) in IAPP (Islet amyloid polypeptide) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
Q43R (p.Gln43Arg) variant details
- p.Gln43Arg
- ExAC rs775281880
- TOPMed rs775281880
- gnomAD rs775281880
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.34
- CADD 23.90
- PolyPhen-2 0.69
- SIFT 0.00
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available