A17G (p.Ala17Gly) variant of NPC2 (P61916)
A17G (p.Ala17Gly) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes structural context.
A17G (p.Ala17Gly) variant details
- p.Ala17Gly
- ExAC rs764017800
- gnomAD rs764017800
- Missense
- Variant Prioritization Score for Impact Estimate 0.267
- ESM-1b 0.00
- AlphaMissense 0.11
- Structural context available