L8F (p.Leu8Phe) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L8F (p.Leu8Phe) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.07 / 1. The record also includes population frequency data and structural context.
L8F (p.Leu8Phe) variant details
- p.Leu8Phe
- TOPMed rs1847854475
- gnomAD rs1847854475
- Missense
- Variant Prioritization Score for Impact Estimate 0.0706
- REVEL 0.01
- CADD 13.10
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available