G16E (p.Gly16Glu) variant of KCNJ5 (P48544)
G16E (p.Gly16Glu) in KCNJ5 (P48544) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
G16E (p.Gly16Glu) variant details
- p.Gly16Glu
- ESP rs148692456
- ExAC rs148692456
- TOPMed rs148692456
- gnomAD rs148692456
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.36
- MetaLR 0.63
- MetaSVM -0.56
- CADD 19.10
- SIFT 0.45
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available