L204F (p.Leu204Phe) variant of SMPD1 (Sphingomyelin phosphodiesterase)
L204F (p.Leu204Phe) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
L204F (p.Leu204Phe) variant details
- p.Leu204Phe
- rs1690892137
- ClinGen CA379370309
- ClinVar RCV001107782
- ClinVar RCV002261277
- Uncertain significance
- Niemann-Pick disease, type A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.781
- REVEL 0.79
- CADD 24.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Niemann-Pick disease, type A; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)