L30L (p.Leu30Leu) variant of GABRG2 (P18507)
L30L (p.Leu30Leu) in GABRG2 (P18507) 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.
L30L (p.Leu30Leu) variant details
- p.Leu30Leu
- rs1758360599
- gnomAD 5-162068087-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.284
- CADD 12.90
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available