S3F (p.Ser3Phe) variant of KCNJ11 (Q14654)
S3F (p.Ser3Phe) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Type 2 diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
S3F (p.Ser3Phe) variant details
- p.Ser3Phe
- rs587783674
- ClinGen CA379777902
- ClinVar RCV002226805
- Ensembl rs587783674
- Uncertain significance
- Type 2 diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- AlphaMissense 0.49
- MetaLR 0.60
- MetaSVM 0.37
- SIFT 0.01
- MutPred 0.21
- ClinVar: Uncertain significance (Type 2 diabetes mellitus)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: WFS1 Spectrum Disorder. (PMID 20301750)
- Cited in: Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline. (PMID 22962670)