A6E (p.Ala6Glu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A6E (p.Ala6Glu) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
A6E (p.Ala6Glu) variant details
- p.Ala6Glu
- TOPMed rs1230304707
- gnomAD rs1230304707
- Missense
- Variant Prioritization Score for Impact Estimate 0.0832
- REVEL 0.05
- CADD 8.19
- PolyPhen-2 0.45
- SIFT 0.22
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available