L38C (p.Leu38Cys) variant of AQP2 (Aquaporin-2)
L38C (p.Leu38Cys) in AQP2 (Aquaporin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L38C (p.Leu38Cys) variant details
- p.Leu38Cys
- gnomAD 12-49950939-GC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.518
- CADD 16.10
- Population evidence available
- Structural context available
- Literature evidence available