T40I (p.Thr40Ile) variant of GABRA1 (P14867)
T40I (p.Thr40Ile) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
T40I (p.Thr40Ile) variant details
- p.Thr40Ile
- gnomAD rs1329745637
- Missense
- Variant Prioritization Score for Impact Estimate 0.609
- REVEL 0.49
- CADD 25.20
- PolyPhen-2 0.89
- SIFT 0.00
- Population evidence available
- Structural context available