S865L (p.Ser865Leu) variant of NPC1 (O15118)
S865L (p.Ser865Leu) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data, published literature, and structural context.
S865L (p.Ser865Leu) variant details
- p.Ser865Leu
- rs1160114136
- ClinGen CA401793087
- ClinVar RCV000990077
- UniProt VAR 043242
- Pathogenic
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.84
- CADD 29.80
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Pathogenic (Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype… (PMID 16098014)
- Cited in: Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2… (PMID 16126423)