G16C (p.Gly16Cys) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G16C (p.Gly16Cys) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
G16C (p.Gly16Cys) variant details
- p.Gly16Cys
- ExAC rs760627709
- gnomAD rs760627709
- Missense
- Variant Prioritization Score for Impact Estimate 0.0929
- REVEL 0.04
- CADD 14.90
- PolyPhen-2 0.05
- SIFT 0.12
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available