S12P (p.Ser12Pro) variant of GABRG2 (P18507)
S12P (p.Ser12Pro) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
S12P (p.Ser12Pro) variant details
- p.Ser12Pro
- gnomAD 5-162036875-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- CADD 13.80
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available