H28Q (p.His28Gln) variant of IAPP (Islet amyloid polypeptide)
H28Q (p.His28Gln) in IAPP (Islet amyloid polypeptide) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
H28Q (p.His28Gln) variant details
- p.His28Gln
- gnomAD 12-21378240-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.153
- REVEL 0.09
- CADD 21.50
- PolyPhen-2 0.72
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available