M1L (p.Met1Leu) variant of GABRG2 (P18507)
M1L (p.Met1Leu) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
M1L (p.Met1Leu) variant details
- p.Met1Leu
- rs981001282
- gnomAD 5-162036860-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.134
- CADD 3.47
- SIFT 0.51
- Population evidence available
- Structural context available
- Literature evidence available