L10F (p.Leu10Phe) variant of NPC1 (O15118)
L10F (p.Leu10Phe) 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 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
L10F (p.Leu10Phe) variant details
- p.Leu10Phe
- rs1272422974
- ClinGen CA402041518
- ClinVar RCV002002982
- gnomAD rs1272422974
- Uncertain significance
- Niemann-Pick disease, type C1
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.37
- CADD 14.90
- PolyPhen-2 0.13
- SIFT 0.12
- ClinVar: Uncertain significance (Niemann-Pick disease, type C1)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: Niemann-Pick Disease Type C. (PMID 20301473)