A17T (p.Ala17Thr) variant of NPC2 (P61916)
A17T (p.Ala17Thr) 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.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- ESP rs145302203
- TOPMed rs145302203
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- ESM-1b 0.00
- AlphaMissense 0.10
- Structural context available