G34V (p.Gly34Val) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G34V (p.Gly34Val) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
G34V (p.Gly34Val) variant details
- p.Gly34Val
- rs1554933790
- TOPMed rs1554933790
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.124
- REVEL 0.04
- CADD 13.50
- PolyPhen-2 0.01
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available