Y330C (p.Tyr330Cys) variant of KCNJ11 (Q14654)
Y330C (p.Tyr330Cys) 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; Type 2 diabetes mellitus; Neonatal insulin-dependent diabetes mell. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
Y330C (p.Tyr330Cys) variant details
- p.Tyr330Cys
- rs193929356
- ClinGen CA172356
- ClinVar RCV000020361
- ClinVar RCV000146124
- Pathogenic/Likely pathogenic
- not provided; Type 2 diabetes mellitus; Neonatal insulin-dependent diabetes mell
- Missense
- Variant Prioritization Score for Impact Estimate 0.931
- AlphaMissense 0.91
- MetaLR 0.91
- MetaSVM 1.04
- SIFT 0.00
- MutPred 0.96
- ClinVar: Pathogenic/Likely pathogenic (not provided; Type 2 diabetes mellitus; Neonatal insulin-depende)
- EBI: Pathogenic (in PNDM2)
- UniProt: Pathogenic (in PNDM2)
- Structural context available
- Cited in: Permanent neonatal diabetes due to mutations in KCNJ11 encoding Kir6.2: patient characteristics and initial response to… (PMID 15448106)
- Cited in: Kir6.2 mutations are a common cause of permanent neonatal diabetes in a large cohort of French patients. (PMID 15448107)