F35V (p.Phe35Val) variant of KCNJ11 (Q14654)
F35V (p.Phe35Val) in KCNJ11 (Q14654) is a missense change. The available record places it in the context of Permanent neonatal diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes published literature and structural context.
F35V (p.Phe35Val) variant details
- p.Phe35Val
- rs193929333
- ClinGen CA341716
- ClinVar RCV000020346
- UniProt VAR 026499
- not provided
- Permanent neonatal diabetes mellitus
- 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: not provided (Permanent neonatal diabetes mellitus)
- EBI: Pathogenic (in PNDM2)
- UniProt: Pathogenic (in PNDM2)
- Structural context available
- Cited in: Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to… (PMID 15448106)
- Cited in: Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal… (PMID 15115830)