V64L (p.Val64Leu) variant of KCNJ11 (Q14654)
V64L (p.Val64Leu) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
V64L (p.Val64Leu) variant details
- p.Val64Leu
- rs115716690
- UniProt VAR 073682
- 1000Genomes rs115716690
- ESP rs115716690
- Uncertain significance
- Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypoglycemia, familia
- Missense
- Variant Prioritization Score for Impact Estimate 0.795
- REVEL 0.92
- AlphaMissense 0.93
- MetaLR 0.41
- MetaSVM -0.16
- CADD 25.80
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Diabetes mellitus, transient neonatal, 3; Hyperinsulinemic hypog)
- EBI: Likely pathogenic (in PNDM2)
- UniProt: Likely pathogenic (in PNDM2)
- Most common in the 1KG:MSL population (allele frequency 0.0063)
- Structural context available
- Cited in: Interaction between mutations in the slide helix of Kir6.2 associated with neonatal diabetes and neurological symptoms. (PMID 20022885)
- Cited in: Conserved functional consequences of disease-associated mutations in the slide helix of Kir6.1 and Kir6.2 subunits of… (PMID 28842488)