M1I (p.Met1Ile) variant of NPC2 (P61916)
M1I (p.Met1Ile) in NPC2 (P61916) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Niemann-Pick disease, type C; Niemann-Pick disease, type C2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs483352893
- ClinGen CA390377010
- ClinVar RCV000673729
- ClinGen CA269836
- Pathogenic
- Niemann-Pick disease, type C; Niemann-Pick disease, type C2
- Missense
- Variant Prioritization Score for Impact Estimate 0.818
- ESM-1b 1.00
- AlphaMissense 0.35
- MetaLR 0.84
- MetaSVM 0.83
- PolyPhen-2 0.98
- SIFT 0.04
- ClinVar: Pathogenic (Niemann-Pick disease, type C2)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)