A27G (p.Ala27Gly) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A27G (p.Ala27Gly) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
A27G (p.Ala27Gly) variant details
- p.Ala27Gly
- ExAC rs755490852
- TOPMed rs755490852
- gnomAD rs755490852
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- REVEL 0.02
- CADD 8.95
- PolyPhen-2 0.01
- SIFT 0.17
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.0012)
- Structural context available