L11F (p.Leu11Phe) variant of NPC1 (O15118)
L11F (p.Leu11Phe) in NPC1 (O15118) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
L11F (p.Leu11Phe) variant details
- p.Leu11Phe
- TOPMed rs1364471701
- gnomAD rs1364471701
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.36
- REVEL 0.37
- CADD 21.40
- PolyPhen-2 0.35
- SIFT 0.19
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available