p.Val55dup variant of KCNE2 (Q9Y6J6)
p.Val55dup in KCNE2 (Q9Y6J6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
p.Val55dup variant details
- rs756730160
- gnomAD 21-34370638-A-ATG
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.771
- CADD 19.10
- Population evidence available
- Structural context available
- Literature evidence available