L39P (p.Leu39Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L39P (p.Leu39Pro) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
L39P (p.Leu39Pro) variant details
- p.Leu39Pro
- NCI-TCGA TCGA novel
- TOPMed rs1364641401
- gnomAD rs1364641401
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- REVEL 0.21
- CADD 23.80
- PolyPhen-2 0.93
- SIFT 0.02
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:CAMBODIAN population (allele frequency 0.05)
- Structural context available