p.Leu43 Ala44insValLeuAlaLeuAlaL variant of SMPD1 (Sphingomyelin phosphodiesterase)
p.Leu43 Ala44insValLeuAlaLeuAlaL in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu43 Ala44insValLeuAlaLeuAlaL variant details
- gnomAD 11-6390711-C-CGCT
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.148
- CADD 8.07
- Most common in the Non-Finnish European population (allele frequency 3.1e-06)
- Structural context available
- Literature evidence available