G23R (p.Gly23Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G23R (p.Gly23Arg) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
G23R (p.Gly23Arg) variant details
- p.Gly23Arg
- ExAC rs750834930
- gnomAD rs750834930
- Missense
- Variant Prioritization Score for Impact Estimate 0.109
- REVEL 0.04
- CADD 8.46
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available