E16G (p.Glu16Gly) variant of KCNJ2 (P63252)
E16G (p.Glu16Gly) in KCNJ2 (P63252) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
E16G (p.Glu16Gly) variant details
- p.Glu16Gly
- ExAC rs758776917
- TOPMed rs758776917
- gnomAD rs758776917
- Missense
- Variant Prioritization Score for Impact Estimate 0.475
- REVEL 0.39
- MetaLR 0.32
- MetaSVM -0.52
- CADD 27.90
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the South Asian population (allele frequency 7e-05)
- Structural context available