C479Y (p.Cys479Tyr) variant of NPC1 (O15118)
C479Y (p.Cys479Tyr) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Inborn genetic diseases; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.90 / 1. The record also includes population frequency data, published literature, and structural context.
C479Y (p.Cys479Tyr) variant details
- p.Cys479Tyr
- rs1555636659
- ClinGen CA401775700
- ClinVar RCV000649020
- ClinVar RCV000728564
- Conflicting interpretations
- not provided; Inborn genetic diseases; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.904
- REVEL 0.94
- AlphaMissense 0.99
- MetaLR 0.95
- MetaSVM 1.10
- CADD 26.90
- PolyPhen-2 1.00
- ClinVar: Conflicting classifications of pathogenicity (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 1.5e-05)
- Structural context available
- Cited in: Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype… (PMID 16098014)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)