G29R (p.Gly29Arg) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G29R (p.Gly29Arg) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
G29R (p.Gly29Arg) variant details
- p.Gly29Arg
- Ensembl rs1564921493
- Missense
- Variant Prioritization Score for Impact Estimate 0.0388
- REVEL 0.02
- CADD 0.01
- PolyPhen-2 0.01
- SIFT 0.42
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available