Q20* (p.Gln20Ter) variant of KCNA1 (Q09470)
Q20* (p.Gln20Ter) in KCNA1 (Q09470) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
Q20* (p.Gln20Ter) variant details
- p.Gln20Ter
- gnomAD 12-4911436-C-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.854
- CADD 36.00
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available