R19S (p.Arg19Ser) variant of SLC12A3 (P55017)
R19S (p.Arg19Ser) in SLC12A3 (P55017) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
R19S (p.Arg19Ser) variant details
- p.Arg19Ser
- ESP rs374055486
- ExAC rs374055486
- TOPMed rs374055486
- gnomAD rs374055486
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available