H186D (p.His186Asp) variant of KCNJ11 (Q14654)
H186D (p.His186Asp) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; 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.
H186D (p.His186Asp) variant details
- p.His186Asp
- rs2133380076
- ClinGen CA379772714
- ClinVar RCV001817837
- ClinVar RCV005922713
- Pathogenic/Likely pathogenic
- not provided; Permanent neonatal diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- AlphaMissense 0.46
- MetaLR 0.79
- MetaSVM 0.73
- SIFT 0.04
- MutPred 0.66
- ClinVar: Pathogenic/Likely pathogenic (not provided; Permanent neonatal diabetes mellitus)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Permanent Neonatal Diabetes Mellitus. (PMID 20301620)