P88L (p.Pro88Leu) variant of NPC2 (P61916)
P88L (p.Pro88Leu) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes structural context.
P88L (p.Pro88Leu) variant details
- p.Pro88Leu
- TOPMed rs1020827082
- Missense
- Variant Prioritization Score for Impact Estimate 0.692
- ESM-1b 1.00
- AlphaMissense 0.32
- Structural context available