V664M (p.Val664Met) variant of NPC1 (O15118)
V664M (p.Val664Met) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of NPC1-related disorder; Niemann-Pick disease, type C; Niemann-Pick disease, type. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
V664M (p.Val664Met) variant details
- p.Val664Met
- rs376213990
- ClinGen CA8913242
- ClinVar RCV000411001
- ClinVar RCV002469141
- Pathogenic
- NPC1-related disorder; Niemann-Pick disease, type C; Niemann-Pick disease, type
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.86
- CADD 24.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Pathogenic (NPC1-related disorder; Niemann-Pick disease, type C; Niemann-Pic)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Cited in: Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and… (PMID 12955717)
- Cited in: Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype… (PMID 16098014)