A454T (p.Ala454Thr) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A454T (p.Ala454Thr) 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; Niemann-Pick disease, type B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
A454T (p.Ala454Thr) variant details
- p.Ala454Thr
- rs144624998
- ClinGen CA5852884
- ClinVar RCV001244033
- ClinVar RCV001835194
- Uncertain significance
- Niemann-Pick disease, type A; Niemann-Pick disease, type B
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.71
- CADD 30.00
- PolyPhen-2 0.80
- SIFT 0.01
- ClinVar: Uncertain significance (Niemann-Pick disease, type A; Niemann-Pick disease, type B)
- EBI: Variant of uncertain significance (in NPDB)
- UniProt: Uncertain significance (in NPDB)
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Cited in: Carrier screening in individuals of Ashkenazi Jewish descent. (PMID 18197057)
- Cited in: ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of… (PMID 19888064)