T62I (p.Thr62Ile) variant of NPC2 (P61916)
T62I (p.Thr62Ile) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
T62I (p.Thr62Ile) variant details
- p.Thr62Ile
- TOPMed rs2086712073
- Missense
- Variant Prioritization Score for Impact Estimate 0.325
- REVEL 0.27
- ESM-1b 0.17
- AlphaMissense 0.17
- CADD 23.10
- PolyPhen-2 0.23
- SIFT 0.03
- Population evidence available
- Structural context available