G6A (p.Gly6Ala) variant of GABRB3 (P28472)
G6A (p.Gly6Ala) in GABRB3 (P28472) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
G6A (p.Gly6Ala) variant details
- p.Gly6Ala
- ExAC rs765680963
- TOPMed rs765680963
- gnomAD rs765680963
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.16
- CADD 15.70
- PolyPhen-2 0.00
- SIFT 0.73
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.9e-06)
- Structural context available