A40W (p.Ala40Trp) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A40W (p.Ala40Trp) in SMPD1 (Sphingomyelin phosphodiesterase) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
A40W (p.Ala40Trp) variant details
- p.Ala40Trp
- gnomAD 11-6390714-TGGCG-
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.52
- CADD 23.70
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available
- Literature evidence available