G55R (p.Gly55Arg) variant of NPC1 (O15118)
G55R (p.Gly55Arg) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data and structural context.
G55R (p.Gly55Arg) variant details
- p.Gly55Arg
- TOPMed rs1418401182
- gnomAD rs1418401182
- Missense
- Variant Prioritization Score for Impact Estimate 0.699
- REVEL 0.70
- CADD 28.20
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available