A19S (p.Ala19Ser) variant of NOTCH1 (P46531)
A19S (p.Ala19Ser) 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.
A19S (p.Ala19Ser) variant details
- p.Ala19Ser
- TOPMed rs1843806277
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 18.80
- PolyPhen-2 0.01
- SIFT 0.71
- Most common in the REMAINING population (allele frequency 1.9e-05)
- Structural context available