R78W (p.Arg78Trp) variant of NPC1 (O15118)
R78W (p.Arg78Trp) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
R78W (p.Arg78Trp) variant details
- p.Arg78Trp
- rs766822145
- ClinGen CA8913787
- ClinVar RCV001227331
- ExAC rs766822145
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.42
- CADD 25.70
- PolyPhen-2 0.34
- SIFT 0.01
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)