L52L (p.Leu52Leu) variant of KCNA1 (Q09470)
L52L (p.Leu52Leu) in KCNA1 (Q09470) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
L52L (p.Leu52Leu) variant details
- p.Leu52Leu
- rs763846827
- gnomAD 12-4911534-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.167
- CADD 12.20
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available