E193K (p.Glu193Lys) variant of ETFDH (Q16134)
E193K (p.Glu193Lys) in ETFDH (Q16134) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Glutaric acidemia type 2C. The record also includes structural context.
E193K (p.Glu193Lys) variant details
- p.Glu193Lys
- Ensembl rs1773973345
- Likely pathogenic
- Glutaric acidemia type 2C
- Missense
- ClinVar: Likely pathogenic (Glutaric acidemia type 2C)
- UniProt: Likely pathogenic
- Structural context available