P90L (p.Pro90Leu) variant of NPC2 (P61916)
P90L (p.Pro90Leu) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes structural context.
P90L (p.Pro90Leu) variant details
- p.Pro90Leu
- TOPMed rs1301761255
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- ESM-1b 1.00
- AlphaMissense 0.25
- Structural context available