V36W (p.Val36Trp) variant of SMPD1 (Sphingomyelin phosphodiesterase)
V36W (p.Val36Trp) 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.
V36W (p.Val36Trp) variant details
- p.Val36Trp
- rs771373973
- gnomAD 11-6390702-TGGTGC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.348
- CADD 23.50
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.7e-05)
- Structural context available
- Literature evidence available