C354R (p.Cys354Arg) variant of SETD5 (Q9C0A6)
C354R (p.Cys354Arg) in SETD5 (Q9C0A6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficie. The record also includes structural context.
C354R (p.Cys354Arg) variant details
- p.Cys354Arg
- rs2472725534
- ClinGen CA351689619
- ClinVar RCV002287857
- Likely pathogenic
- Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficie
- Missense
- ClinVar: Likely pathogenic (Intellectual disability-facial dysmorphism syndrome due to SETD5)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available