G12V (p.Gly12Val) variant of KCNQ4 (P56696)
G12V (p.Gly12Val) in KCNQ4 (P56696) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- gnomAD 1-40784125-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.543
- CADD 24.50
- Most common in the South Asian population (allele frequency 5.1e-05)
- Structural context available
- Literature evidence available