S667L (p.Ser667Leu) variant of NPC1 (O15118)
S667L (p.Ser667Leu) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S667L (p.Ser667Leu) variant details
- p.Ser667Leu
- rs2058756032
- ClinGen CA401771622
- ClinVar RCV001892286
- Ensembl rs2058756032
- Pathogenic
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.876
- REVEL 0.94
- CADD 26.30
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Pathogenic (Niemann-Pick disease, type C1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)