W32C (p.Trp32Cys) variant of SMPD1 (Sphingomyelin phosphodiesterase)
W32C (p.Trp32Cys) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
W32C (p.Trp32Cys) variant details
- p.Trp32Cys
- gnomAD 11-6390694-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- REVEL 0.14
- CADD 23.90
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available