L37A (p.Leu37Ala) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L37A (p.Leu37Ala) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
L37A (p.Leu37Ala) variant details
- p.Leu37Ala
- gnomAD 11-6390706-GCTGGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.446
- CADD 22.10
- Most common in the Non-Finnish European population (allele frequency 3.3e-06)
- Structural context available
- Literature evidence available