P17L (p.Pro17Leu) variant of GABRG2 (P18507)
P17L (p.Pro17Leu) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
P17L (p.Pro17Leu) variant details
- p.Pro17Leu
- rs1757718622
- gnomAD 5-162036879-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.107
- CADD 6.33
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available