G16S (p.Gly16Ser) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G16S (p.Gly16Ser) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
G16S (p.Gly16Ser) variant details
- p.Gly16Ser
- cosmic curated COSV10459
- ExAC rs760627709
- gnomAD rs760627709
- Missense
- Variant Prioritization Score for Impact Estimate 0.0775
- REVEL 0.02
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available