Q167R (p.Gln167Arg) variant of SIX1 (Homeobox protein SIX1)
Q167R (p.Gln167Arg) in SIX1 (Homeobox protein SIX1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Melnick-Fraser syndrome. The record also includes structural context.
Q167R (p.Gln167Arg) variant details
- p.Gln167Arg
- rs2502643576
- ClinGen CA389910185
- ClinVar RCV002471424
- Likely pathogenic
- Melnick-Fraser syndrome
- Missense
- ClinVar: Likely pathogenic (Melnick-Fraser syndrome)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available