L24del (p.Leu24del) variant of AQP1 (Aquaporin-1)
L24del (p.Leu24del) in AQP1 (Aquaporin-1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L24del (p.Leu24del) variant details
- rs2128590552
- gnomAD 7-30921673-TCTC-T
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.317
- CADD 4.25
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available