L2P (p.Leu2Pro) variant of KCNJ11 (Q14654)
L2P (p.Leu2Pro) 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; Neonatal diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes published literature and structural context.
L2P (p.Leu2Pro) variant details
- p.Leu2Pro
- rs193922565
- ClinGen CA214112
- ClinVar RCV000030105
- ClinVar RCV002226660
- Conflicting interpretations
- Maturity-onset diabetes of the young; Neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.712
- AlphaMissense 0.33
- MetaLR 0.81
- MetaSVM 0.77
- SIFT 0.00
- MutPred 0.30
- ClinVar: Conflicting classifications of pathogenicity (Maturity-onset diabetes of the young; Neonatal diabetes mellitus)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Maturity-Onset Diabetes of the Young Overview. (PMID 29792621)