V36G (p.Val36Gly) variant of SMPD1 (Sphingomyelin phosphodiesterase)
V36G (p.Val36Gly) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
V36G (p.Val36Gly) variant details
- p.Val36Gly
- gnomAD 11-6390704-GT-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.347
- CADD 21.80
- Most common in the Non-Finnish European population (allele frequency 1.1e-06)
- Structural context available
- Literature evidence available