C90R (p.Cys90Arg) variant of NOTCH2 (Q04721)
C90R (p.Cys90Arg) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.83 / 1. The record also includes population frequency data and structural context.
C90R (p.Cys90Arg) variant details
- p.Cys90Arg
- Ensembl rs1232996741
- Missense
- Variant Prioritization Score for Impact Estimate 0.826
- REVEL 0.96
- CADD 27.10
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available