S14C (p.Ser14Cys) variant of IAPP (Islet amyloid polypeptide)
S14C (p.Ser14Cys) in IAPP (Islet amyloid polypeptide) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S14C (p.Ser14Cys) variant details
- p.Ser14Cys
- gnomAD rs1367248248
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.16
- CADD 7.34
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available