G57V (p.Gly57Val) variant of GABRB3 (P28472)
G57V (p.Gly57Val) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
G57V (p.Gly57Val) variant details
- p.Gly57Val
- Ensembl rs1891185709
- Missense
- Variant Prioritization Score for Impact Estimate 0.833
- REVEL 0.89
- CADD 31.00
- PolyPhen-2 0.97
- SIFT 0.00
- Population evidence available
- Structural context available