L47V (p.Leu47Val) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L47V (p.Leu47Val) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L47V (p.Leu47Val) variant details
- p.Leu47Val
- gnomAD 11-6390734-GCGCTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.232
- CADD 21.40
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available