R44S (p.Arg44Ser) variant of IAPP (Islet amyloid polypeptide)
R44S (p.Arg44Ser) in IAPP (Islet amyloid polypeptide) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R44S (p.Arg44Ser) variant details
- p.Arg44Ser
- ExAC rs763676184
- TOPMed rs763676184
- gnomAD rs763676184
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.26
- CADD 22.10
- PolyPhen-2 0.19
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available