G12S (p.Gly12Ser) variant of KCNQ4 (P56696)
G12S (p.Gly12Ser) in KCNQ4 (P56696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
G12S (p.Gly12Ser) variant details
- p.Gly12Ser
- gnomAD 1-40784125-TGG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.549
- CADD 25.30
- Most common in the Non-Finnish European population (allele frequency 1.5e-06)
- Structural context available
- Literature evidence available