L37W (p.Leu37Trp) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L37W (p.Leu37Trp) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
L37W (p.Leu37Trp) variant details
- p.Leu37Trp
- rs761696094
- gnomAD 11-6390706-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.388
- CADD 14.20
- Most common in the Latino/Admixed American population (allele frequency 8.1e-05)
- Structural context available
- Literature evidence available