A51S (p.Ala51Ser) variant of NOTCH1 (P46531)
A51S (p.Ala51Ser) in NOTCH1 (P46531) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A51S (p.Ala51Ser) variant details
- p.Ala51Ser
- gnomAD rs1188063786
- Missense
- Variant Prioritization Score for Impact Estimate 0.413
- CADD 17.40
- PolyPhen-2 0.00
- SIFT 0.10
- Population evidence available
- Structural context available