Y4N (p.Tyr4Asn) variant of SMPD1 (Sphingomyelin phosphodiesterase)
Y4N (p.Tyr4Asn) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
Y4N (p.Tyr4Asn) variant details
- p.Tyr4Asn
- TOPMed rs1400503556
- Uncertain significance
- Missense
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available