Q89E (p.Gln89Glu) variant of GABRB3 (P28472)
Q89E (p.Gln89Glu) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data and structural context.
Q89E (p.Gln89Glu) variant details
- p.Gln89Glu
- Ensembl rs904100576
- Missense
- Variant Prioritization Score for Impact Estimate 0.72
- REVEL 0.68
- CADD 25.70
- PolyPhen-2 0.77
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available