H512R (p.His512Arg) variant of NPC1 (O15118)
H512R (p.His512Arg) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Niemann-Pick disease, type C1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
H512R (p.His512Arg) variant details
- p.His512Arg
- rs1567963883
- ClinGen CA401775303
- ClinVar RCV000731119
- ClinVar RCV002536459
- Conflicting interpretations
- Niemann-Pick disease, type C1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.84
- CADD 24.00
- ClinVar: Conflicting classifications of pathogenicity (Niemann-Pick disease, type C1; not provided)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: NPC1: Complete genomic sequence, mutation analysis, and characterization of haplotypes. (PMID 11754101)
- Cited in: NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. (PMID 10480349)