V39G (p.Val39Gly) variant of AQP1 (Aquaporin-1)
V39G (p.Val39Gly) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V39G (p.Val39Gly) variant details
- p.Val39Gly
- TOPMed rs1433395263
- gnomAD rs1433395263
- Missense
- Variant Prioritization Score for Impact Estimate 0.491
- REVEL 0.50
- MetaLR 0.59
- MetaSVM 0.18
- CADD 24.80
- PolyPhen-2 0.05
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available