S15S (p.Ser15Ser) variant of SMPD1 (Sphingomyelin phosphodiesterase)
S15S (p.Ser15Ser) in SMPD1 (Sphingomyelin phosphodiesterase) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S15S (p.Ser15Ser) variant details
- p.Ser15Ser
- rs1472913994
- gnomAD 11-6390643-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.136
- CADD 7.84
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available