L41P (p.Leu41Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L41P (p.Leu41Pro) 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 0.39 / 1. The record also includes population frequency data and structural context.
L41P (p.Leu41Pro) variant details
- p.Leu41Pro
- rs760549042
- ExAC rs760549042
- TOPMed rs760549042
- gnomAD rs760549042
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.24
- CADD 22.20
- PolyPhen-2 0.52
- SIFT 0.05
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available