K53* (p.Lys53Ter) variant of KCNA1 (Q09470)
K53* (p.Lys53Ter) in KCNA1 (Q09470) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
K53* (p.Lys53Ter) variant details
- p.Lys53Ter
- gnomAD 12-4911535-A-T
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.711
- CADD 37.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available