A5E (p.Ala5Glu) variant of GABRB3 (P28472)
A5E (p.Ala5Glu) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A5E (p.Ala5Glu) variant details
- p.Ala5Glu
- gnomAD rs1315237922
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.13
- CADD 18.10
- PolyPhen-2 0.00
- SIFT 0.53
- Population evidence available
- Structural context available