N64D (p.Asn64Asp) variant of NPC2 (P61916)
N64D (p.Asn64Asp) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
N64D (p.Asn64Asp) variant details
- p.Asn64Asp
- TOPMed rs2086712042
- Missense
- Variant Prioritization Score for Impact Estimate 0.198
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.13
- CADD 20.30
- PolyPhen-2 0.09
- SIFT 0.30
- Population evidence available
- Structural context available