K12E (p.Lys12Glu) variant of AQP4 (Aquaporin-4)
K12E (p.Lys12Glu) in AQP4 (Aquaporin-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
K12E (p.Lys12Glu) variant details
- p.Lys12Glu
- Ensembl rs2054974706
- Missense
- Variant Prioritization Score for Impact Estimate 0.483
- REVEL 0.40
- CADD 24.30
- PolyPhen-2 0.06
- SIFT 0.05
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available