F48Y (p.Phe48Tyr) variant of IAPP (Islet amyloid polypeptide)
F48Y (p.Phe48Tyr) in IAPP (Islet amyloid polypeptide) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
F48Y (p.Phe48Tyr) variant details
- p.Phe48Tyr
- ExAC rs750354470
- gnomAD rs750354470
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.27
- CADD 23.70
- PolyPhen-2 0.99
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available