R69S (p.Arg69Ser) variant of SLC6A1 (P30531)
R69S (p.Arg69Ser) in SLC6A1 (P30531) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes published literature and structural context.
R69S (p.Arg69Ser) variant details
- p.Arg69Ser
- rs2470189052
- ClinGen CA351788409
- ClinVar RCV003444324
- ClinVar RCV004588799
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: SLC6A1-Related Neurodevelopmental Disorder. (PMID 36780407)