M1V (p.Met1Val) variant of NPC1 (O15118)
M1V (p.Met1Val) 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 C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes published literature and structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs1057517005
- ClinGen CA16041926
- ClinVar RCV000412029
- Likely pathogenic
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- MetaLR 0.61
- MetaSVM -0.07
- PolyPhen-2 0.00
- SIFT 0.00
- MutPred 1.00
- 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)