M1I (p.Met1Ile) variant of NPC1 (O15118)
M1I (p.Met1Ile) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes published literature and structural context.
M1I (p.Met1Ile) variant details
- p.Met1Ile
- rs1555645630
- ClinGen CA402041566
- ClinVar RCV000666536
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.476
- MetaLR 0.61
- MetaSVM -0.08
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 1.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C1)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)