T43A (p.Thr43Ala) variant of NOTCH1 (P46531)
T43A (p.Thr43Ala) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
T43A (p.Thr43Ala) variant details
- p.Thr43Ala
- ExAC rs753523233
- TOPMed rs753523233
- gnomAD rs753523233
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- CADD 22.20
- PolyPhen-2 0.11
- SIFT 0.07
- Population evidence available
- Structural context available