E16D (p.Glu16Asp) variant of KCNJ2 (P63252)
E16D (p.Glu16Asp) in KCNJ2 (P63252) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
E16D (p.Glu16Asp) variant details
- p.Glu16Asp
- TOPMed rs1470684052
- gnomAD rs1470684052
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.195
- REVEL 0.17
- MetaLR 0.18
- MetaSVM -0.91
- CADD 17.10
- PolyPhen-2 0.19
- SIFT 0.06
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available