G3S (p.Gly3Ser) variant of GABRB3 (P28472)
G3S (p.Gly3Ser) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G3S (p.Gly3Ser) variant details
- p.Gly3Ser
- TOPMed rs1891196762
- gnomAD rs1891196762
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.23
- CADD 18.20
- PolyPhen-2 0.06
- SIFT 0.56
- Most common in the Ashkenazi Jewish population (allele frequency 0.00029)
- Structural context available