Q43K (p.Gln43Lys) variant of IAPP (Islet amyloid polypeptide)
Q43K (p.Gln43Lys) in IAPP (Islet amyloid polypeptide) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q43K (p.Gln43Lys) variant details
- p.Gln43Lys
- gnomAD 12-21378283-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- REVEL 0.26
- CADD 23.00
- PolyPhen-2 0.49
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available