D22G (p.Asp22Gly) variant of SMPD1 (Sphingomyelin phosphodiesterase)
D22G (p.Asp22Gly) 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.
D22G (p.Asp22Gly) variant details
- p.Asp22Gly
- ExAC rs765485028
- TOPMed rs765485028
- gnomAD rs765485028
- Missense
- Variant Prioritization Score for Impact Estimate 0.0818
- REVEL 0.01
- CADD 15.70
- PolyPhen-2 0.01
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available