L22P (p.Leu22Pro) variant of AQP2 (Aquaporin-2)
L22P (p.Leu22Pro) in AQP2 (Aquaporin-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
L22P (p.Leu22Pro) variant details
- p.Leu22Pro
- gnomAD 12-49950894-CT-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 26.50
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available