L41Q (p.Leu41Gln) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L41Q (p.Leu41Gln) 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.
L41Q (p.Leu41Gln) variant details
- p.Leu41Gln
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.392
- REVEL 0.23
- CADD 23.20
- PolyPhen-2 0.62
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available