V12C (p.Val12Cys) variant of IAPP (Islet amyloid polypeptide)
V12C (p.Val12Cys) in IAPP (Islet amyloid polypeptide) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
V12C (p.Val12Cys) variant details
- p.Val12Cys
- rs1939941547
- gnomAD 12-21373384-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.187
- CADD 15.00
- Population evidence available
- Structural context available
- Literature evidence available