P331T (p.Pro331Thr) variant of SMPD1 (Sphingomyelin phosphodiesterase)
P331T (p.Pro331Thr) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P331T (p.Pro331Thr) variant details
- p.Pro331Thr
- ESP rs142476839
- ExAC rs142476839
- TOPMed rs142476839
- gnomAD rs142476839
- Uncertain significance
- Niemann-Pick disease, type A
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.77
- CADD 25.20
- ClinVar: Uncertain significance (Niemann-Pick disease, type A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available