T40N (p.Thr40Asn) variant of GABRA1 (P14867)
T40N (p.Thr40Asn) in GABRA1 (P14867) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
T40N (p.Thr40Asn) variant details
- p.Thr40Asn
- gnomAD 5-161854202-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.28
- MetaLR 0.37
- MetaSVM -0.47
- CADD 24.30
- PolyPhen-2 0.73
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available