L49L (p.Leu49Leu) variant of GABRA1 (P14867)
L49L (p.Leu49Leu) in GABRA1 (P14867) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
L49L (p.Leu49Leu) variant details
- p.Leu49Leu
- rs2113307246
- gnomAD 5-161854230-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.92
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available