R33Q (p.Arg33Gln) variant of IAPP (Islet amyloid polypeptide)
R33Q (p.Arg33Gln) in IAPP (Islet amyloid polypeptide) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
R33Q (p.Arg33Gln) variant details
- p.Arg33Gln
- rs200996235
- NCI-TCGA Cosmic COSV5371
- cosmic curated COSV53714
- ExAC rs200996235
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.28
- CADD 26.70
- PolyPhen-2 0.93
- SIFT 0.03
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available