R192C (p.Arg192Cys) variant of KCNJ11 (Q14654)
R192C (p.Arg192Cys) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Maturity-onset diabetes of the young type 13. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
R192C (p.Arg192Cys) variant details
- p.Arg192Cys
- rs780511484
- NCI-TCGA Cosmic COSV6059
- cosmic curated COSV60594
- ExAC rs780511484
- Likely pathogenic
- Maturity-onset diabetes of the young type 13
- Missense
- Variant Prioritization Score for Impact Estimate 0.835
- REVEL 0.94
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Maturity-onset diabetes of the young type 13)
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available