S20R (p.Ser20Arg) variant of GABRG2 (P18507)
S20R (p.Ser20Arg) 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.
S20R (p.Ser20Arg) variant details
- p.Ser20Arg
- gnomAD 5-162036905-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- CADD 13.10
- SIFT 0.45
- Population evidence available
- Structural context available
- Literature evidence available