S50P (p.Ser50Pro) variant of SMPD1 (Sphingomyelin phosphodiesterase)
S50P (p.Ser50Pro) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.04 / 1. The record also includes population frequency data and structural context.
S50P (p.Ser50Pro) variant details
- p.Ser50Pro
- rs781675416
- ClinGen CA379367531
- ClinVar RCV000597540
- ExAC rs781675416
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.0413
- REVEL 0.01
- CADD 1.04
- PolyPhen-2 0.00
- SIFT 0.91
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available