V100E (p.Val100Glu) variant of AQP4 (Aquaporin-4)
V100E (p.Val100Glu) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
V100E (p.Val100Glu) variant details
- p.Val100Glu
- gnomAD 18-26862330-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.95
- MetaLR 0.91
- MetaSVM 1.08
- CADD 28.30
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available