G29D (p.Gly29Asp) variant of SMPD1 (Sphingomyelin phosphodiesterase)
G29D (p.Gly29Asp) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G29D (p.Gly29Asp) variant details
- p.Gly29Asp
- rs750157176
- gnomAD 11-6390677-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.208
- CADD 18.00
- Population evidence available
- Structural context available
- Literature evidence available