L1244P (p.Leu1244Pro) variant of NPC1 (O15118)
L1244P (p.Leu1244Pro) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Niemann-Pick disease, type C1; Niemann-Pick disease, type C. The record also includes published literature and structural context.
L1244P (p.Leu1244Pro) variant details
- p.Leu1244Pro
- rs2511176179
- ClinGen CA401790539
- ClinVar RCV003501729
- ClinVar RCV004526997
- Likely pathogenic
- not provided; Niemann-Pick disease, type C1; Niemann-Pick disease, type C
- Missense
- ClinVar: Likely pathogenic (Niemann-Pick disease, type C1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)