S27I (p.Ser27Ile) variant of GABRB3 (P28472)
S27I (p.Ser27Ile) in GABRB3 (P28472) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
S27I (p.Ser27Ile) variant details
- p.Ser27Ile
- gnomAD rs865875277
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.40
- CADD 32.00
- PolyPhen-2 0.06
- SIFT 0.06
- Population evidence available
- Structural context available