V50E (p.Val50Glu) variant of AQP1 (Aquaporin-1)
V50E (p.Val50Glu) in AQP1 (Aquaporin-1) 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.
V50E (p.Val50Glu) variant details
- p.Val50Glu
- gnomAD 7-30912058-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.85
- REVEL 0.95
- MetaLR 0.88
- MetaSVM 0.96
- CADD 29.70
- PolyPhen-2 0.99
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available