P28R (p.Pro28Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
P28R (p.Pro28Arg) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from EBI and UniProt describe it as benign. The record also includes population frequency data and structural context.
P28R (p.Pro28Arg) variant details
- p.Pro28Arg
- 1000Genomes rs556155962
- ExAC rs556155962
- TOPMed rs556155962
- gnomAD rs556155962
- Benign
- Missense
- EBI: Benign
- UniProt: Benign
- Population evidence available
- Structural context available