G46D (p.Gly46Asp) variant of NPC1 (O15118)
G46D (p.Gly46Asp) 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 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
G46D (p.Gly46Asp) variant details
- p.Gly46Asp
- rs1425737401
- ClinGen CA402041264
- ClinVar RCV001369382
- TOPMed rs1425737401
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.65
- REVEL 0.62
- CADD 23.70
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)