C35Y (p.Cys35Tyr) variant of NOTCH2 (Q04721)
C35Y (p.Cys35Tyr) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
C35Y (p.Cys35Tyr) variant details
- p.Cys35Tyr
- gnomAD rs1654027638
- Missense
- Variant Prioritization Score for Impact Estimate 0.867
- REVEL 0.92
- CADD 25.90
- Most common in the African/African-American population (allele frequency 2.7e-05)
- Structural context available