L33C (p.Leu33Cys) variant of AQP1 (Aquaporin-1)
L33C (p.Leu33Cys) in AQP1 (Aquaporin-1) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L33C (p.Leu33Cys) variant details
- p.Leu33Cys
- rs1562580010
- gnomAD 7-30921717-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.0937
- CADD 1.85
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available