L28F (p.Leu28Phe) variant of AQP2 (Aquaporin-2)
L28F (p.Leu28Phe) in AQP2 (Aquaporin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in NDI2. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
L28F (p.Leu28Phe) variant details
- p.Leu28Phe
- gnomAD rs1333138865
- Uncertain significance
- in NDI2
- Missense
- Variant Prioritization Score for Impact Estimate 0.544
- REVEL 0.54
- CADD 24.10
- PolyPhen-2 0.97
- SIFT 0.00
- EBI: Variant of uncertain significance (in NDI2)
- UniProt: Uncertain significance (in NDI2)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available