L39R (p.Leu39Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L39R (p.Leu39Arg) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L39R (p.Leu39Arg) variant details
- p.Leu39Arg
- rs1316694521
- gnomAD 11-6390713-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.244
- CADD 23.00
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available