M84R (p.Met84Arg) variant of NOTCH2 (Q04721)
M84R (p.Met84Arg) in NOTCH2 (Q04721) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. 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.
M84R (p.Met84Arg) variant details
- p.Met84Arg
- TOPMed rs1353659503
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.51
- CADD 21.80
- PolyPhen-2 0.67
- SIFT 0.56
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00012)
- Structural context available