V1212M (p.Val1212Met) variant of NPC1 (O15118)
V1212M (p.Val1212Met) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
V1212M (p.Val1212Met) variant details
- p.Val1212Met
- rs753419933
- ClinGen CA401790758
- ClinVar RCV003606438
- ClinVar RCV006455712
- Likely pathogenic
- Niemann-Pick disease, type C; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.816
- AlphaMissense 0.59
- MetaLR 0.86
- MetaSVM 0.86
- PolyPhen-2 0.87
- SIFT 0.01
- EVE 0.76
- ClinVar: 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: Niemann-Pick Disease Type C. (PMID 20301473)