L50L (p.Leu50Leu) variant of GABRA1 (P14867)
L50L (p.Leu50Leu) in GABRA1 (P14867) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L50L (p.Leu50Leu) variant details
- p.Leu50Leu
- rs2113307265
- gnomAD 5-161854231-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 9.10
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- Literature evidence available