C166W (p.Cys166Trp) variant of KCNJ11 (Q14654)
C166W (p.Cys166Trp) in KCNJ11 (Q14654) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Diabetes mellitus. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes structural context.
C166W (p.Cys166Trp) variant details
- p.Cys166Trp
- rs587783669
- ClinGen CA172328
- ClinVar RCV000146107
- Ensembl rs587783669
- Likely pathogenic
- Diabetes mellitus
- Missense
- Variant Prioritization Score for Impact Estimate 0.896
- AlphaMissense 0.98
- MetaLR 0.88
- MetaSVM 0.94
- SIFT 0.00
- MutPred 0.81
- ClinVar: Likely pathogenic (Diabetes mellitus)
- EBI: Likely pathogenic (in PNDM2)
- UniProt: Likely pathogenic (in PNDM2)
- Structural context available