G992W (p.Gly992Trp) variant of NPC1 (O15118)
G992W (p.Gly992Trp) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
G992W (p.Gly992Trp) variant details
- p.Gly992Trp
- rs1555632971
- ClinGen CA658799013
- ClinVar RCV000649019
- ClinVar RCV000728621
- Pathogenic/Likely pathogenic
- not provided; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.81
- REVEL 0.90
- CADD 26.30
- PolyPhen-2 0.88
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the East Asian population (allele frequency 7.6e-05)
- Structural context available
- Cited in: Mutations in NPC1 highlight a conserved NPC1-specific cysteine-rich domain. (PMID 10521290)
- Cited in: Clinical-biochemical correlation in molecularly characterized patients with Niemann-Pick type C. (PMID 11545687)