L19V (p.Leu19Val) variant of AQP1 (Aquaporin-1)
L19V (p.Leu19Val) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L19V (p.Leu19Val) variant details
- p.Leu19Val
- TOPMed rs1476942158
- gnomAD rs1476942158
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.21
- MetaLR 0.39
- MetaSVM -0.55
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.79
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available