p.Ala48 Leu49del variant of SMPD1 (Sphingomyelin phosphodiesterase)
p.Ala48 Leu49del 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.Ala48 Leu49del variant details
- rs3838786
- gnomAD 11-6390705-TGCTGG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.251
- CADD 11.20
- Most common in the HGDP:BIAKA population (allele frequency 0.64)
- Structural context available
- Literature evidence available