N70H (p.Asn70His) variant of NPC1 (O15118)
N70H (p.Asn70His) in NPC1 (O15118) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
N70H (p.Asn70His) variant details
- p.Asn70His
- rs557439505
- gnomAD 18-23522898-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0834
- CADD 0.39
- Population evidence available
- Structural context available
- Literature evidence available