L23V (p.Leu23Val) variant of AQP1 (Aquaporin-1)
L23V (p.Leu23Val) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L23V (p.Leu23Val) variant details
- p.Leu23Val
- TOPMed rs1280879987
- gnomAD rs1280879987
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.36
- MetaLR 0.51
- MetaSVM -0.17
- CADD 20.30
- PolyPhen-2 0.00
- SIFT 0.24
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available