R78L (p.Arg78Leu) variant of NPC1 (O15118)
R78L (p.Arg78Leu) 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 0.32 / 1. The record also includes population frequency data and structural context.
R78L (p.Arg78Leu) variant details
- p.Arg78Leu
- 1000Genomes rs373274825
- ESP rs373274825
- ExAC rs373274825
- TOPMed rs373274825
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.27
- CADD 20.40
- PolyPhen-2 0.00
- SIFT 0.18
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available