G248V (p.Gly248Val) variant of NPC1 (O15118)
G248V (p.Gly248Val) 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 C; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
G248V (p.Gly248Val) variant details
- p.Gly248Val
- rs1230538609
- ClinGen CA401781217
- ClinVar RCV001289552
- ClinVar RCV005408807
- Likely pathogenic
- Niemann-Pick disease, type C; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.753
- REVEL 0.82
- CADD 23.60
- PolyPhen-2 0.79
- SIFT 0.14
- ClinVar: Likely pathogenic (Niemann-Pick disease, type C; Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- Cited in: Niemann-Pick C variant detection by altered sphingolipid trafficking and correlation with mutations within a specific… (PMID 11349231)
- Cited in: NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. (PMID 10480349)