C40R (p.Cys40Arg) variant of IAPP (Islet amyloid polypeptide)
C40R (p.Cys40Arg) in IAPP (Islet amyloid polypeptide) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
C40R (p.Cys40Arg) variant details
- p.Cys40Arg
- cosmic curated COSV53714
- Ensembl rs1940351821
- Missense
- Variant Prioritization Score for Impact Estimate 0.521
- REVEL 0.58
- CADD 23.60
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available