D51L (p.Asp51Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
D51L (p.Asp51Leu) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
D51L (p.Asp51Leu) variant details
- p.Asp51Leu
- rs1057516949
- gnomAD 11-6390746-TCTGA-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.242
- CADD 22.80
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Cited in: Cirrhosis and liver failure: expanding phenotype of Acid sphingomyelinase-deficient niemann-pick disease in adulthood. (PMID 24718843)