D31Y (p.Asp31Tyr) variant of NPC2 (P61916)
D31Y (p.Asp31Tyr) 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.
D31Y (p.Asp31Tyr) variant details
- p.Asp31Tyr
- Ensembl rs868810641
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.19
- CADD 18.30
- PolyPhen-2 0.37
- SIFT 0.13
- Population evidence available
- Structural context available