W32G (p.Trp32Gly) variant of SMPD1 (Sphingomyelin phosphodiesterase)
W32G (p.Trp32Gly) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
W32G (p.Trp32Gly) variant details
- p.Trp32Gly
- gnomAD rs1239946469
- Missense
- Variant Prioritization Score for Impact Estimate 0.154
- REVEL 0.07
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available