L8R (p.Leu8Arg) variant of NPC1 (O15118)
L8R (p.Leu8Arg) in NPC1 (O15118) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Niemann-Pick disease, type C1; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L8R (p.Leu8Arg) variant details
- p.Leu8Arg
- rs1012718245
- ClinGen CA297085317
- ClinVar RCV001898359
- ClinVar RCV003228015
- Uncertain significance
- Niemann-Pick disease, type C1; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- AlphaMissense 0.11
- MetaLR 0.70
- MetaSVM -0.07
- PolyPhen-2 0.61
- SIFT 0.01
- MutPred 0.67
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)