Q10E (p.Gln10Glu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
Q10E (p.Gln10Glu) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
Q10E (p.Gln10Glu) variant details
- p.Gln10Glu
- gnomAD 11-6390626-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.04
- CADD 10.60
- PolyPhen-2 0.01
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available