A51T (p.Ala51Thr) variant of NOTCH1 (P46531)
A51T (p.Ala51Thr) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
A51T (p.Ala51Thr) variant details
- p.Ala51Thr
- gnomAD rs1188063786
- Missense
- Variant Prioritization Score for Impact Estimate 0.45
- CADD 22.30
- PolyPhen-2 0.03
- SIFT 0.03
- Population evidence available
- Structural context available