R78Q (p.Arg78Gln) variant of NPC1 (O15118)
R78Q (p.Arg78Gln) 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; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
R78Q (p.Arg78Gln) variant details
- p.Arg78Gln
- rs373274825
- ClinGen CA8913786
- ClinVar RCV000732048
- ClinVar RCV000811491
- Conflicting interpretations
- not provided; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.26
- CADD 16.10
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PJL population (allele frequency 0.0052)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)