T55M (p.Thr55Met) variant of AQP5 (Aquaporin-5)
T55M (p.Thr55Met) in AQP5 (Aquaporin-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
T55M (p.Thr55Met) variant details
- p.Thr55Met
- TOPMed rs1348251687
- gnomAD rs1348251687
- Missense
- Variant Prioritization Score for Impact Estimate 0.633
- REVEL 0.55
- CADD 22.00
- PolyPhen-2 0.94
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available