p.Leu31 Trp32insSerGlyLeuLeu variant of SMPD1 (Sphingomyelin phosphodiesterase)
p.Leu31 Trp32insSerGlyLeuLeu in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu31 Trp32insSerGlyLeuLeu variant details
- gnomAD 11-6390680-C-CCCG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.252
- CADD 9.85
- Population evidence available
- Structural context available
- Literature evidence available