F35L (p.Phe35Leu) variant of KCNJ11 (Q14654)
F35L (p.Phe35Leu) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Neonatal hypoglycemia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
F35L (p.Phe35Leu) variant details
- p.Phe35Leu
- rs193929333
- ClinGen CA341714
- ClinVar RCV000020345
- ClinVar RCV002226651
- Benign
- Neonatal hypoglycemia
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- AlphaMissense 0.93
- MetaLR 0.73
- MetaSVM 0.46
- SIFT 0.23
- MutPred 0.90
- ClinVar: Benign (Neonatal hypoglycemia)
- EBI: Pathogenic (in PNDM2)
- UniProt: Pathogenic (in PNDM2)
- Structural context available
- Cited in: Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. (PMID 15448107)
- Cited in: Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal… (PMID 15115830)