R72C (p.Arg72Cys) variant of NOTCH2 (Q04721)
R72C (p.Arg72Cys) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
R72C (p.Arg72Cys) variant details
- p.Arg72Cys
- ExAC rs782131599
- TOPMed rs782131599
- gnomAD rs782131599
- Uncertain significance
- Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.488
- REVEL 0.28
- CADD 25.10
- PolyPhen-2 0.99
- SIFT 0.07
- ClinVar: Uncertain significance (Alagille syndrome due to a NOTCH2 point mutation; Hajdu-Cheney s)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available