P90R (p.Pro90Arg) variant of NPC1 (O15118)
P90R (p.Pro90Arg) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Niemann-Pick disease, type C; Niemann-Pick disease, type C1. The record also includes published literature and structural context.
P90R (p.Pro90Arg) variant details
- p.Pro90Arg
- rs2511352190
- ClinVar RCV004586149
- Likely pathogenic
- Niemann-Pick disease, type C; Niemann-Pick disease, type C1
- Missense
- ClinVar: Likely pathogenic (Niemann-Pick disease, type C; Niemann-Pick disease, type C1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)