G5D (p.Gly5Asp) variant of NPC1 (O15118)
G5D (p.Gly5Asp) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
G5D (p.Gly5Asp) variant details
- p.Gly5Asp
- Ensembl rs866847441
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.21
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.13
- Population evidence available
- Structural context available