V1212L (p.Val1212Leu) variant of NPC1 (O15118)
V1212L (p.Val1212Leu) 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; Niemann-Pick disease, type C1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
V1212L (p.Val1212Leu) variant details
- p.Val1212Leu
- rs753419933
- ClinGen CA8912687
- ClinVar RCV000675013
- ClinVar RCV003155279
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C; Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.79
- AlphaMissense 0.59
- MetaLR 0.86
- MetaSVM 0.86
- CADD 25.30
- PolyPhen-2 0.87
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C; Niemann-Pick disease, type C1)
- EBI: Pathogenic (in NPC1)
- UniProt: Pathogenic (in NPC1)
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Cited in: Six novel NPC1 mutations in Chinese patients with Niemann-Pick disease type C. (PMID 15774455)
- Cited in: NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C. (PMID 10480349)