V950G (p.Val950Gly) variant of NPC1 (O15118)
V950G (p.Val950Gly) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Niemann-Pick disease, type C; not provided; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
V950G (p.Val950Gly) variant details
- p.Val950Gly
- rs1057517978
- ClinGen CA16043142
- ClinVar RCV000414206
- ClinVar RCV000779241
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C; not provided; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.91
- CADD 23.80
- PolyPhen-2 0.09
- SIFT 0.05
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C; not provided; Niemann-Pick disease)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the Non-Finnish European population (allele frequency 6.3e-06)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)