p.Leu49 Ser50insAlaLeuGlyLeu variant of SMPD1 (Sphingomyelin phosphodiesterase)
p.Leu49 Ser50insAlaLeuGlyLeu in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu49 Ser50insAlaLeuGlyLeu variant details
- gnomAD 11-6390741-C-CGCT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.46
- CADD 8.66
- Population evidence available
- Structural context available
- Literature evidence available