E98Q (p.Glu98Gln) variant of KCNJ10 (P78508)
E98Q (p.Glu98Gln) in KCNJ10 (P78508) 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 0.72 / 1. The record also includes population frequency data.
E98Q (p.Glu98Gln) variant details
- p.Glu98Gln
- rs200054482
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10092
- 1000Genomes rs200054482
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.721
- CADD 20.20
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available