L121F (p.Leu121Phe) variant of NPC1 (O15118)
L121F (p.Leu121Phe) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
L121F (p.Leu121Phe) variant details
- p.Leu121Phe
- ExAC rs772290631
- TOPMed rs772290631
- gnomAD rs772290631
- Missense
- Variant Prioritization Score for Impact Estimate 0.468
- REVEL 0.52
- CADD 23.30
- PolyPhen-2 0.08
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available