S20A (p.Ser20Ala) variant of GABRG2 (P18507)
S20A (p.Ser20Ala) in GABRG2 (P18507) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S20A (p.Ser20Ala) variant details
- p.Ser20Ala
- gnomAD 5-162036901-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.239
- CADD 15.60
- Population evidence available
- Structural context available
- Literature evidence available