A44R (p.Ala44Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A44R (p.Ala44Arg) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A44R (p.Ala44Arg) variant details
- p.Ala44Arg
- gnomAD 11-6390726-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.234
- CADD 21.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available