V64M (p.Val64Met) variant of KCNJ11 (Q14654)
V64M (p.Val64Met) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Neonatal diabetes mellitus; DEND syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V64M (p.Val64Met) variant details
- p.Val64Met
- rs115716690
- ClinGen CA379775801
- ClinVar RCV002052018
- 1000Genomes rs115716690
- Likely pathogenic
- Neonatal diabetes mellitus; DEND syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.49
- AlphaMissense 0.93
- MetaLR 0.41
- MetaSVM -0.16
- SIFT 0.00
- MutPred 0.82
- ClinVar: Likely pathogenic (Neonatal diabetes mellitus; DEND syndrome)
- EBI: Likely pathogenic (in PNDM2)
- UniProt: Likely pathogenic (in PNDM2)
- Population evidence available
- Structural context available