S50A (p.Ser50Ala) variant of SMPD1 (Sphingomyelin phosphodiesterase)
S50A (p.Ser50Ala) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.03 / 1. The record also includes population frequency data and structural context.
S50A (p.Ser50Ala) variant details
- p.Ser50Ala
- ExAC rs781675416
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0349
- REVEL 0.01
- CADD 1.02
- PolyPhen-2 0.01
- SIFT 0.59
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available