A46G (p.Ala46Gly) variant of IAPP (Islet amyloid polypeptide)
A46G (p.Ala46Gly) in IAPP (Islet amyloid polypeptide) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
A46G (p.Ala46Gly) variant details
- p.Ala46Gly
- gnomAD 12-21378293-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.15
- CADD 23.50
- PolyPhen-2 0.66
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available