p.Gly12 Leu47del variant of KCNQ4 (P56696)
p.Gly12 Leu47del in KCNQ4 (P56696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
p.Gly12 Leu47del variant details
- gnomAD 1-40784106-CCCCCG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.607
- CADD 19.50
- Most common in the Non-Finnish European population (allele frequency 3e-06)
- Structural context available
- Literature evidence available