R789H (p.Arg789His) variant of NPC1 (O15118)
R789H (p.Arg789His) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.95 / 1. The record also includes published literature and structural context.
R789H (p.Arg789His) variant details
- p.Arg789His
- rs483352891
- ClinGen CA269831
- ClinVar RCV000119335
- ClinVar RCV003230407
- Conflicting interpretations
- not specified; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.953
- AlphaMissense 0.87
- MetaLR 0.97
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.98
- ClinVar: Conflicting classifications of pathogenicity (not specified; Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)