R12L (p.Arg12Leu) variant of AQP1 (Aquaporin-1)
R12L (p.Arg12Leu) 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.
R12L (p.Arg12Leu) variant details
- p.Arg12Leu
- rs187798109
- gnomAD 7-30921717-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.0456
- CADD 0.16
- SIFT 0.10
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available
- Literature evidence available