C42R (p.Cys42Arg) variant of KCNJ11 (Q14654)
C42R (p.Cys42Arg) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Maturity-onset diabetes of the young; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes published literature and structural context.
C42R (p.Cys42Arg) variant details
- p.Cys42Arg
- rs80356610
- ClinGen CA119829
- ClinVar RCV000009211
- ClinVar RCV000020347
- Conflicting interpretations
- Maturity-onset diabetes of the young; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- AlphaMissense 0.97
- MetaLR 0.85
- MetaSVM 0.75
- SIFT 0.01
- MutPred 0.97
- ClinVar: Conflicting classifications of pathogenicity (Maturity-onset diabetes of the young; not provided)
- EBI: Pathogenic (in TNDM3)
- UniProt: Pathogenic (in TNDM3)
- Structural context available
- Cited in: The C42R mutation in the Kir6.2 (KCNJ11) gene as a cause of transient neonatal diabetes, childhood diabetes, or… (PMID 15784703)
- Cited in: Relapsing diabetes can result from moderately activating mutations in KCNJ11. (PMID 15718250)