C113R (p.Cys113Arg) variant of NPC1 (O15118)
C113R (p.Cys113Arg) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Niemann-Pick disease, type C; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.99 / 1. The record also includes published literature and structural context.
C113R (p.Cys113Arg) variant details
- p.Cys113Arg
- rs120074136
- ClinGen CA252503
- ClinVar RCV000003112
- ClinVar RCV002509143
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.985
- AlphaMissense 0.99
- MetaLR 0.98
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.99
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C; Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Structural context available
- Cited in: Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann-Pick type C disease. (PMID 12554680)
- Cited in: NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. (PMID 10480349)