S3C (p.Ser3Cys) variant of KCNJ11 (Q14654)
S3C (p.Ser3Cys) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Neonatal insulin-dependent diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes structural context.
S3C (p.Ser3Cys) variant details
- p.Ser3Cys
- rs587783674
- ClinGen CA172350
- ClinVar RCV000146121
- Ensembl rs587783674
- Pathogenic
- Neonatal insulin-dependent diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- AlphaMissense 0.49
- MetaLR 0.60
- MetaSVM 0.37
- SIFT 0.01
- MutPred 0.21
- ClinVar: Pathogenic (Neonatal insulin-dependent diabetes mellitus)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available