A5E (p.Ala5Glu) variant of NPC2 (P61916)
A5E (p.Ala5Glu) in NPC2 (P61916) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A5E (p.Ala5Glu) variant details
- p.Ala5Glu
- gnomAD rs1322133696
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.46
- ESM-1b 1.00
- AlphaMissense 0.53
- CADD 2.74
- PolyPhen-2 0.04
- SIFT 0.80
- Population evidence available
- Structural context available