A40D (p.Ala40Asp) variant of NOTCH1 (P46531)
A40D (p.Ala40Asp) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
A40D (p.Ala40Asp) variant details
- p.Ala40Asp
- gnomAD rs1433296087
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- CADD 9.76
- PolyPhen-2 0.00
- SIFT 0.64
- Population evidence available
- Structural context available