D51G (p.Asp51Gly) variant of SMPD1 (Sphingomyelin phosphodiesterase)
D51G (p.Asp51Gly) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic in the context of in NPDB. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
D51G (p.Asp51Gly) variant details
- p.Asp51Gly
- ExAC rs748589919
- TOPMed rs748589919
- gnomAD rs748589919
- Likely pathogenic
- in NPDB
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.05
- CADD 17.50
- PolyPhen-2 0.01
- SIFT 0.08
- EBI: Likely pathogenic (in NPDB)
- UniProt: Likely pathogenic (in NPDB)
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available