A6G (p.Ala6Gly) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A6G (p.Ala6Gly) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
A6G (p.Ala6Gly) variant details
- p.Ala6Gly
- TOPMed rs1230304707
- gnomAD rs1230304707
- Missense
- Variant Prioritization Score for Impact Estimate 0.0801
- REVEL 0.08
- CADD 1.74
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the African/African-American population (allele frequency 9e-05)
- Structural context available