F60Y (p.Phe60Tyr) variant of KCNJ11 (Q14654)
F60Y (p.Phe60Tyr) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hyperinsulinemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes published literature and structural context.
F60Y (p.Phe60Tyr) variant details
- p.Phe60Tyr
- rs387906783
- ClinGen CA128966
- ClinVar RCV000023046
- ClinVar RCV002226654
- Uncertain significance
- Hyperinsulinemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- AlphaMissense 0.98
- MetaLR 0.46
- MetaSVM 0.06
- SIFT 0.00
- MutPred 0.90
- ClinVar: Uncertain significance (Hyperinsulinemia)
- EBI: Pathogenic (in PNDM2)
- UniProt: Pathogenic (in PNDM2)
- Structural context available
- Cited in: Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms. (PMID 20022885)
- Cited in: Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal… (PMID 15115830)