L63L (p.Leu63Leu) variant of KCNJ11 (Q14654)
L63L (p.Leu63Leu) in KCNJ11 (Q14654) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
L63L (p.Leu63Leu) variant details
- p.Leu63Leu
- rs1173987170
- gnomAD 11-17387903-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.687
- CADD 9.19
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available