K5S (p.Lys5Ser) variant of IAPP (Islet amyloid polypeptide)
K5S (p.Lys5Ser) in IAPP (Islet amyloid polypeptide) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
K5S (p.Lys5Ser) variant details
- p.Lys5Ser
- gnomAD 12-21373363-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.227
- CADD 20.70
- Population evidence available
- Structural context available
- Literature evidence available