A40T (p.Ala40Thr) variant of NOTCH1 (P46531)
A40T (p.Ala40Thr) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A40T (p.Ala40Thr) variant details
- p.Ala40Thr
- Ensembl rs2133406180
- Missense
- Variant Prioritization Score for Impact Estimate 0.249
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.64
- Population evidence available
- Structural context available