R44C (p.Arg44Cys) variant of IAPP (Islet amyloid polypeptide)
R44C (p.Arg44Cys) in IAPP (Islet amyloid polypeptide) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
R44C (p.Arg44Cys) variant details
- p.Arg44Cys
- rs763676184
- NCI-TCGA Cosmic COSV5371
- cosmic curated COSV53713
- ExAC rs763676184
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- REVEL 0.23
- CADD 23.10
- PolyPhen-2 0.06
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available