D104Y (p.Asp104Tyr) variant of NPC2 (P61916)
D104Y (p.Asp104Tyr) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
D104Y (p.Asp104Tyr) variant details
- p.Asp104Tyr
- gnomAD 14-74484468-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.503
- REVEL 0.50
- ESM-1b 1.00
- AlphaMissense 0.28
- CADD 24.10
- PolyPhen-2 0.75
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available