Y24* (p.Tyr24Ter) variant of KCNA1 (Q09470)
Y24* (p.Tyr24Ter) in KCNA1 (Q09470) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
Y24* (p.Tyr24Ter) variant details
- p.Tyr24Ter
- gnomAD 12-4911450-C-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.684
- CADD 36.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available