L47Q (p.Leu47Gln) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L47Q (p.Leu47Gln) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L47Q (p.Leu47Gln) variant details
- p.Leu47Gln
- gnomAD rs1249315685
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.05
- CADD 21.00
- PolyPhen-2 0.90
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available