p.Leu49 Ser50del variant of SMPD1 (Sphingomyelin phosphodiesterase)
p.Leu49 Ser50del in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
p.Leu49 Ser50del variant details
- rs1382534368
- gnomAD 11-6390740-GCTCTG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 12.60
- Most common in the African/African-American population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available