G76D (p.Gly76Asp) variant of NPC2 (P61916)
G76D (p.Gly76Asp) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 1.00 / 1. The record also includes structural context.
G76D (p.Gly76Asp) variant details
- p.Gly76Asp
- TOPMed rs978355274
- Missense
- Variant Prioritization Score for Impact Estimate 0.995
- ESM-1b 1.00
- AlphaMissense 0.99
- Structural context available