L30F (p.Leu30Phe) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L30F (p.Leu30Phe) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
L30F (p.Leu30Phe) variant details
- p.Leu30Phe
- ESP rs376159116
- TOPMed rs376159116
- gnomAD rs376159116
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.05
- CADD 15.20
- PolyPhen-2 0.03
- SIFT 0.08
- Most common in the Non-Finnish European population (allele frequency 8.9e-05)
- Structural context available