R72S (p.Arg72Ser) variant of NOTCH2 (Q04721)
R72S (p.Arg72Ser) in NOTCH2 (Q04721) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
R72S (p.Arg72Ser) variant details
- p.Arg72Ser
- ExAC rs782131599
- TOPMed rs782131599
- gnomAD rs782131599
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.414
- REVEL 0.16
- CADD 23.80
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available