L15R (p.Leu15Arg) variant of NPC1 (O15118)
L15R (p.Leu15Arg) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
L15R (p.Leu15Arg) variant details
- p.Leu15Arg
- rs2059417979
- ClinGen CA402041490
- ClinVar RCV001280494
- Ensembl rs2059417979
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.60
- CADD 24.40
- PolyPhen-2 0.38
- SIFT 0.04
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)