L23R (p.Leu23Arg) variant of AQP1 (Aquaporin-1)
L23R (p.Leu23Arg) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data, published literature, and structural context.
L23R (p.Leu23Arg) variant details
- p.Leu23Arg
- rs750771143
- gnomAD 7-30921672-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.0534
- CADD 1.62
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available
- Literature evidence available