P474L (p.Pro474Leu) variant of NPC1 (O15118)
P474L (p.Pro474Leu) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Niemann-Pick disease, type C1; Cognitive impairment. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
P474L (p.Pro474Leu) variant details
- p.Pro474Leu
- rs372445155
- ClinGen CA8913468
- ClinVar RCV000415065
- ClinVar RCV000823177
- Pathogenic
- not provided; Niemann-Pick disease, type C1; Cognitive impairment
- Missense
- Variant Prioritization Score for Impact Estimate 0.813
- REVEL 0.86
- CADD 25.40
- PolyPhen-2 0.35
- SIFT 0.00
- ClinVar: Pathogenic (not provided; Niemann-Pick disease, type C1; Cognitive impairmen)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in… (PMID 12401890)
- Cited in: Identification of 25 new mutations in 40 unrelated Spanish Niemann-Pick type C patients: genotype-phenotype… (PMID 16098014)