E119D (p.Glu119Asp) variant of KCNQ2 (O43526)
E119D (p.Glu119Asp) in KCNQ2 (O43526) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The record also includes structural context.
E119D (p.Glu119Asp) variant details
- p.Glu119Asp
- NCI-TCGA Cosmic COSV6043
- cosmic curated COSV60436
- Uncertain significance
- Inborn genetic diseases
- Missense
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Structural context available