G55V (p.Gly55Val) variant of NPC1 (O15118)
G55V (p.Gly55Val) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G55V (p.Gly55Val) variant details
- p.Gly55Val
- gnomAD 18-23522906-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.327
- CADD 7.77
- Population evidence available
- Structural context available
- Literature evidence available