S11S (p.Ser11Ser) variant of SMPD1 (Sphingomyelin phosphodiesterase)
S11S (p.Ser11Ser) in SMPD1 (Sphingomyelin phosphodiesterase) is a synonymous 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.
S11S (p.Ser11Ser) variant details
- p.Ser11Ser
- gnomAD 11-6390631-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.235
- CADD 8.86
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available