H427L (p.His427Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
H427L (p.His427Leu) in SMPD1 (Sphingomyelin phosphodiesterase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Niemann-Pick disease, type A; Niemann-Pick disease, type B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
H427L (p.His427Leu) variant details
- p.His427Leu
- rs794727629
- ClinGen CA245141
- ClinVar RCV000178119
- ClinVar RCV001852206
- Conflicting interpretations
- not provided; Niemann-Pick disease, type A; Niemann-Pick disease, type B
- Missense
- Variant Prioritization Score for Impact Estimate 0.843
- REVEL 0.97
- CADD 29.50
- PolyPhen-2 0.95
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Niemann-Pick disease, type A; Niemann-Pick disease)
- EBI: Pathogenic (in NPDB)
- UniProt: Pathogenic (in NPDB)
- Most common in the REMAINING population (allele frequency 1.7e-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)