K64E (p.Lys64Glu) variant of AQP4 (Aquaporin-4)
K64E (p.Lys64Glu) in AQP4 (Aquaporin-4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
K64E (p.Lys64Glu) variant details
- p.Lys64Glu
- ESP rs367543329
- ExAC rs367543329
- TOPMed rs367543329
- gnomAD rs367543329
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.27
- REVEL 0.19
- CADD 14.50
- PolyPhen-2 0.00
- SIFT 0.36
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available