L28M (p.Leu28Met) variant of GABRG2 (P18507)
L28M (p.Leu28Met) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
L28M (p.Leu28Met) variant details
- p.Leu28Met
- gnomAD 5-162036920-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.139
- CADD 4.36
- SIFT 0.20
- Population evidence available
- Structural context available
- Literature evidence available