R789C (p.Arg789Cys) variant of NPC1 (O15118)
R789C (p.Arg789Cys) 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 C1; Niemann-Pick disease, type C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
R789C (p.Arg789Cys) variant details
- p.Arg789Cys
- rs1555633697
- ClinGen CA401793596
- NCI-TCGA Cosmic COSV5257
- ClinVar RCV000670704
- Pathogenic/Likely pathogenic
- not provided; Niemann-Pick disease, type C1; Niemann-Pick disease, type C
- Missense
- Variant Prioritization Score for Impact Estimate 0.852
- REVEL 0.96
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (not provided; Niemann-Pick disease, type C1; Niemann-Pick diseas)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific… (PMID 11349231)
- Cited in: NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. (PMID 10480349)