L35A (p.Leu35Ala) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L35A (p.Leu35Ala) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L35A (p.Leu35Ala) variant details
- p.Leu35Ala
- gnomAD 11-6390700-CCTGGT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.409
- CADD 23.80
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available