V59M (p.Val59Met) variant of KCNJ11 (Q14654)
V59M (p.Val59Met) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Diabetes mellitus, permanent neonatal 2; not provided; Neonatal diabetes mellitu. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V59M (p.Val59Met) variant details
- p.Val59Met
- rs80356616
- ClinGen CA119823
- ClinVar RCV000009201
- ClinVar RCV000030665
- Pathogenic
- Diabetes mellitus, permanent neonatal 2; not provided; Neonatal diabetes mellitu
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- REVEL 0.77
- CADD 24.10
- PolyPhen-2 0.96
- SIFT 0.07
- ClinVar: Pathogenic (Diabetes mellitus, permanent neonatal 2; not provided; Neonatal)
- EBI: Pathogenic (in PNDM2)
- UniProt: Pathogenic (in PNDM2)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Activating mutations in the gene encoding the ATP-sensitive potassium-channel subunit Kir6.2 and permanent neonatal… (PMID 15115830)
- Cited in: Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to… (PMID 15448106)