p.Val36 Leu45del variant of SMPD1 (Sphingomyelin phosphodiesterase)
p.Val36 Leu45del in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
p.Val36 Leu45del variant details
- gnomAD 11-6390700-CCTGGT
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 17.10
- Most common in the Non-Finnish European population (allele frequency 8.4e-06)
- Structural context available
- Literature evidence available