A453T (p.Ala453Thr) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A453T (p.Ala453Thr) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type A; Niemann-Pick disease, type B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
A453T (p.Ala453Thr) variant details
- p.Ala453Thr
- ExAC rs777032252
- gnomAD rs777032252
- Uncertain significance
- Niemann-Pick disease, type A; Niemann-Pick disease, type B
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- REVEL 0.66
- CADD 22.90
- PolyPhen-2 0.28
- SIFT 0.61
- ClinVar: Uncertain significance (Niemann-Pick disease, type A; Niemann-Pick disease, type B)
- UniProt: Uncertain significance (in NPDB)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available