C19F (p.Cys19Phe) variant of NOTCH2 (Q04721)
C19F (p.Cys19Phe) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
C19F (p.Cys19Phe) variant details
- p.Cys19Phe
- ExAC rs782166299
- gnomAD rs782166299
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.07
- CADD 16.80
- PolyPhen-2 0.00
- SIFT 0.88
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available