C18Y (p.Cys18Tyr) variant of NOTCH2 (Q04721)
C18Y (p.Cys18Tyr) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
C18Y (p.Cys18Tyr) variant details
- p.Cys18Tyr
- ExAC rs781804379
- gnomAD rs781804379
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.15
- CADD 16.30
- PolyPhen-2 0.10
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available