C63R (p.Cys63Arg) variant of NPC1 (O15118)
C63R (p.Cys63Arg) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Niemann-Pick disease, type C1; Niemann-Pick disease, type C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
C63R (p.Cys63Arg) variant details
- p.Cys63Arg
- rs747049347
- ClinGen CA8913794
- ClinVar RCV003064507
- ClinVar RCV006454320
- Likely pathogenic
- Niemann-Pick disease, type C1; Niemann-Pick disease, type C
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.98
- CADD 28.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Niemann-Pick disease, type C1; Niemann-Pick disease, type C)
- 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: Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C. (PMID 11545687)
- Cited in: NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. (PMID 10480349)