S8G (p.Ser8Gly) variant of GABRG2 (P18507)
S8G (p.Ser8Gly) in GABRG2 (P18507) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
S8G (p.Ser8Gly) variant details
- p.Ser8Gly
- gnomAD 5-162068021-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.435
- CADD 23.10
- PolyPhen-2 0.01
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available