V36M (p.Val36Met) variant of SMPD1 (Sphingomyelin phosphodiesterase)
V36M (p.Val36Met) 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 0.14 / 1. The record also includes population frequency data and structural context.
V36M (p.Val36Met) variant details
- p.Val36Met
- ESP rs141685473
- ExAC rs141685473
- TOPMed rs141685473
- gnomAD rs141685473
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.04
- CADD 15.90
- PolyPhen-2 0.18
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available