S15Y (p.Ser15Tyr) variant of SMPD1 (Sphingomyelin phosphodiesterase)
S15Y (p.Ser15Tyr) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
S15Y (p.Ser15Tyr) variant details
- p.Ser15Tyr
- gnomAD rs1367744440
- Missense
- Variant Prioritization Score for Impact Estimate 0.183
- REVEL 0.07
- CADD 22.40
- PolyPhen-2 0.46
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available