p.Gly12dup variant of KCNQ5 (Q9NR82)
p.Gly12dup in KCNQ5 (Q9NR82) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly12dup variant details
- gnomAD 6-72622219-G-GGGC
- Inframe Insertion
- Variant Prioritization Score for Impact Estimate 0.451
- CADD 22.10
- Most common in the Non-Finnish European population (allele frequency 2.2e-06)
- Structural context available
- Literature evidence available