H51Q (p.His51Gln) variant of IAPP (Islet amyloid polypeptide)
H51Q (p.His51Gln) in IAPP (Islet amyloid polypeptide) is a protein-truncating 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.
H51Q (p.His51Gln) variant details
- p.His51Gln
- gnomAD 12-21373710-ATG-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.246
- CADD 4.06
- Population evidence available
- Structural context available
- Literature evidence available