C92R (p.Cys92Arg) variant of NOTCH2 (Q04721)
C92R (p.Cys92Arg) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data and structural context.
C92R (p.Cys92Arg) variant details
- p.Cys92Arg
- TOPMed rs1652935820
- gnomAD rs1652935820
- Missense
- Variant Prioritization Score for Impact Estimate 0.808
- REVEL 0.93
- CADD 27.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available