G5R (p.Gly5Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G5R (p.Gly5Arg) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.12 / 1. The record also includes population frequency data and structural context.
G5R (p.Gly5Arg) variant details
- p.Gly5Arg
- gnomAD rs1283979194
- Missense
- Variant Prioritization Score for Impact Estimate 0.121
- REVEL 0.02
- CADD 18.20
- PolyPhen-2 0.05
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available