H70Q (p.His70Gln) variant of KCNJ11 (Q14654)
H70Q (p.His70Gln) in KCNJ11 (Q14654) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
H70Q (p.His70Gln) variant details
- p.His70Gln
- Ensembl rs749829780
- Missense
- Variant Prioritization Score for Impact Estimate 0.724
- REVEL 0.77
- CADD 25.20
- PolyPhen-2 0.64
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available