C106G (p.Cys106Gly) variant of KCNQ2 (O43526)
C106G (p.Cys106Gly) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Developmental and epileptic encephalopathy, 7. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes published literature and structural context.
C106G (p.Cys106Gly) variant details
- p.Cys106Gly
- rs2145789722
- ClinGen CA409656531
- ClinVar RCV001806428
- Ensembl rs2145789722
- Likely pathogenic
- Developmental and epileptic encephalopathy, 7
- Missense
- Variant Prioritization Score for Impact Estimate 0.844
- AlphaMissense 0.98
- MetaLR 0.91
- MetaSVM 0.97
- PolyPhen-2 0.33
- SIFT 0.00
- EVE 0.74
- ClinVar: Likely pathogenic (Developmental and epileptic encephalopathy, 7)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: KCNQ2-Related Disorders. (PMID 20437616)