Q117R (p.Gln117Arg) variant of NPC1 (O15118)
Q117R (p.Gln117Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data, published literature, and structural context.
Q117R (p.Gln117Arg) variant details
- p.Gln117Arg
- rs1567977251
- ClinGen CA401785525
- ClinVar RCV000705147
- Ensembl rs1567977251
- Likely pathogenic
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.82
- REVEL 0.95
- CADD 26.40
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Likely pathogenic (Niemann-Pick disease, type C1)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)