L18L (p.Leu18Leu) variant of GABRA1 (P14867)
L18L (p.Leu18Leu) in GABRA1 (P14867) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- rs753085546
- gnomAD 5-161850864-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.283
- CADD 5.81
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available