V1141G (p.Val1141Gly) variant of NPC1 (O15118)
V1141G (p.Val1141Gly) 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 C1; Niemann-Pick disease, type C. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
V1141G (p.Val1141Gly) variant details
- p.Val1141Gly
- rs144725473
- ClinGen CA297079167
- ClinVar RCV001864018
- ClinVar RCV004690149
- Pathogenic/Likely pathogenic
- Niemann-Pick disease, type C1; Niemann-Pick disease, type C
- Missense
- Variant Prioritization Score for Impact Estimate 0.735
- REVEL 0.87
- CADD 32.00
- PolyPhen-2 0.89
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Niemann-Pick disease, type C1; Niemann-Pick disease, type C)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)