L51M (p.Leu51Met) variant of AQP5 (Aquaporin-5)
L51M (p.Leu51Met) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L51M (p.Leu51Met) variant details
- p.Leu51Met
- gnomAD 12-49962168-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.415
- REVEL 0.51
- CADD 19.10
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available