L75L (p.Leu75Leu) variant of KCNJ3 (P48549)
L75L (p.Leu75Leu) in KCNJ3 (P48549) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L75L (p.Leu75Leu) variant details
- p.Leu75Leu
- rs1156634063
- gnomAD 2-154698998-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.501
- CADD 12.80
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available