H70H (p.His70His) variant of KCNJ11 (Q14654)
H70H (p.His70His) in KCNJ11 (Q14654) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
H70H (p.His70His) variant details
- p.His70His
- gnomAD 11-17387882-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.54
- CADD 10.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available