R44L (p.Arg44Leu) variant of IAPP (Islet amyloid polypeptide)
R44L (p.Arg44Leu) in IAPP (Islet amyloid polypeptide) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R44L (p.Arg44Leu) variant details
- p.Arg44Leu
- gnomAD 12-21378287-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.26
- CADD 24.80
- PolyPhen-2 0.57
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available