S940L (p.Ser940Leu) variant of NPC1 (O15118)
S940L (p.Ser940Leu) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Niemann-Pick disease, type C; 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.
S940L (p.Ser940Leu) variant details
- p.Ser940Leu
- rs143124972
- ClinGen CA273881
- ClinVar RCV000169010
- ClinVar RCV000728524
- Pathogenic/Likely pathogenic
- not provided; Niemann-Pick disease, type C; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.885
- REVEL 0.92
- CADD 32.00
- PolyPhen-2 0.93
- SIFT 0.03
- ClinVar: Pathogenic/Likely pathogenic (not provided; Niemann-Pick disease, type C; Niemann-Pick disease)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available
- Cited in: Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. (PMID 10521290)
- Cited in: Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific… (PMID 11349231)