A28G (p.Ala28Gly) variant of KCNJ11 (Q14654)
A28G (p.Ala28Gly) in KCNJ11 (Q14654) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A28G (p.Ala28Gly) variant details
- p.Ala28Gly
- ExAC rs754683593
- TOPMed rs754683593
- gnomAD rs754683593
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.446
- REVEL 0.26
- CADD 18.80
- PolyPhen-2 0.08
- SIFT 0.25
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available