V52L (p.Val52Leu) variant of AQP1 (Aquaporin-1)
V52L (p.Val52Leu) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.82 / 1. The record also includes population frequency data and structural context.
V52L (p.Val52Leu) variant details
- p.Val52Leu
- 1000Genomes rs35115273
- ESP rs35115273
- ExAC rs35115273
- TOPMed rs35115273
- Missense
- Variant Prioritization Score for Impact Estimate 0.823
- REVEL 0.84
- MetaLR 0.80
- MetaSVM 0.79
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available