K64Q (p.Lys64Gln) variant of AQP4 (Aquaporin-4)
K64Q (p.Lys64Gln) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
K64Q (p.Lys64Gln) variant details
- p.Lys64Gln
- ESP rs367543329
- ExAC rs367543329
- TOPMed rs367543329
- gnomAD rs367543329
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.21
- CADD 12.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available