L72L (p.Leu72Leu) variant of AQP4 (Aquaporin-4)
L72L (p.Leu72Leu) in AQP4 (Aquaporin-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L72L (p.Leu72Leu) variant details
- p.Leu72Leu
- rs747311510
- gnomAD 18-26862413-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.638
- CADD 7.59
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available
- Literature evidence available