G55E (p.Gly55Glu) variant of NPC1 (O15118)
G55E (p.Gly55Glu) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and structural context.
G55E (p.Gly55Glu) variant details
- p.Gly55Glu
- ExAC rs754920859
- gnomAD rs754920859
- Missense
- Variant Prioritization Score for Impact Estimate 0.733
- REVEL 0.70
- CADD 25.10
- PolyPhen-2 0.89
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 5.4e-06)
- Structural context available