F465L (p.Phe465Leu) variant of SMPD1 (Sphingomyelin phosphodiesterase)
F465L (p.Phe465Leu) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
F465L (p.Phe465Leu) variant details
- p.Phe465Leu
- rs1848061944
- ClinGen CA379375035
- ClinVar RCV001984353
- ClinVar RCV003402025
- Likely pathogenic
- Niemann-Pick disease, type A; Niemann-Pick disease, type B
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- REVEL 0.85
- CADD 29.20
- PolyPhen-2 0.75
- SIFT 0.00
- ClinVar: Likely pathogenic (Niemann-Pick disease, type A)
- EBI: Likely pathogenic (in NPDA)
- UniProt: Likely pathogenic (in NPDA)
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- 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)