V59L (p.Val59Leu) variant of NPC1 (O15118)
V59L (p.Val59Leu) 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 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
V59L (p.Val59Leu) variant details
- p.Val59Leu
- rs1365313736
- ClinGen CA402041179
- ClinVar RCV001280493
- TOPMed rs1365313736
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.237
- REVEL 0.24
- CADD 8.82
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)