P90H (p.Pro90His) variant of NPC2 (P61916)
P90H (p.Pro90His) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes structural context.
P90H (p.Pro90His) variant details
- p.Pro90His
- TOPMed rs1301761255
- Missense
- Variant Prioritization Score for Impact Estimate 0.698
- ESM-1b 1.00
- AlphaMissense 0.34
- Structural context available