L4L (p.Leu4Leu) variant of KCNJ3 (P48549)
L4L (p.Leu4Leu) in KCNJ3 (P48549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L4L (p.Leu4Leu) variant details
- p.Leu4Leu
- gnomAD 2-154698787-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.554
- CADD 12.50
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available
- Literature evidence available