L68F (p.Leu68Phe) variant of AQP7 (Aquaporin-7)
L68F (p.Leu68Phe) in AQP7 (Aquaporin-7) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
L68F (p.Leu68Phe) variant details
- p.Leu68Phe
- ExAC rs775905309
- gnomAD rs775905309
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.12
- CADD 23.20
- PolyPhen-2 0.63
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available