p.Ala27dup variant of KCNQ5 (Q9NR82)
p.Ala27dup in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
p.Ala27dup variant details
- gnomAD 6-72622252-C-CGCA
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.657
- CADD 19.40
- Population evidence available
- Structural context available
- Literature evidence available