Y24L (p.Tyr24Leu) variant of KCNA1 (Q09470)
Y24L (p.Tyr24Leu) in KCNA1 (Q09470) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
Y24L (p.Tyr24Leu) variant details
- p.Tyr24Leu
- gnomAD 12-4911447-C-CT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.378
- CADD 26.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available