G47A (p.Gly47Ala) variant of GABRB3 (P28472)
G47A (p.Gly47Ala) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
G47A (p.Gly47Ala) variant details
- p.Gly47Ala
- gnomAD rs1321425602
- Missense
- Variant Prioritization Score for Impact Estimate 0.747
- REVEL 0.77
- CADD 26.20
- PolyPhen-2 0.93
- SIFT 0.00
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available