E77K (p.Glu77Lys) variant of GABRB3 (P28472)
E77K (p.Glu77Lys) in GABRB3 (P28472) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of not provided. The record also includes structural context.
E77K (p.Glu77Lys) variant details
- p.Glu77Lys
- NCI-TCGA Cosmic COSV5468
- cosmic curated COSV54683
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- UniProt: Pathogenic
- Structural context available