L23L (p.Leu23Leu) variant of AQP1 (Aquaporin-1)
L23L (p.Leu23Leu) in AQP1 (Aquaporin-1) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
L23L (p.Leu23Leu) variant details
- p.Leu23Leu
- gnomAD 7-30911978-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.356
- CADD 10.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available