D874V (p.Asp874Val) variant of NPC1 (O15118)
D874V (p.Asp874Val) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Inborn genetic diseases; Niemann-Pick disease, type C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D874V (p.Asp874Val) variant details
- p.Asp874Val
- rs372030650
- ClinGen CA275049
- ClinVar RCV000175270
- ClinVar RCV000606384
- Pathogenic/Likely pathogenic
- not provided; Inborn genetic diseases; Niemann-Pick disease, type C
- Missense
- Variant Prioritization Score for Impact Estimate 0.675
- REVEL 0.86
- CADD 28.30
- PolyPhen-2 0.48
- SIFT 0.04
- ClinVar: Pathogenic/Likely pathogenic (not provided; Inborn genetic diseases; Niemann-Pick disease, typ)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Non-Finnish European population (allele frequency 0.00019)
- Structural context available
- Cited in: Niemann-Pick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the… (PMID 11333381)
- Cited in: Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific… (PMID 11349231)