G55G (p.Gly55Gly) variant of NPC1 (O15118)
G55G (p.Gly55Gly) in NPC1 (O15118) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G55G (p.Gly55Gly) variant details
- p.Gly55Gly
- gnomAD 18-23522905-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.21
- CADD 0.74
- Population evidence available
- Structural context available
- Literature evidence available