A601T (p.Ala601Thr) variant of SMPD1 (Sphingomyelin phosphodiesterase)
A601T (p.Ala601Thr) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
A601T (p.Ala601Thr) variant details
- p.Ala601Thr
- rs750433951
- ClinGen CA5852991
- ClinVar RCV000671468
- ClinVar RCV001215758
- Likely pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.34
- CADD 24.00
- PolyPhen-2 0.06
- SIFT 0.00
- ClinVar: Likely pathogenic (Niemann-Pick disease, type A; Niemann-Pick disease, type B)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)