M84V (p.Met84Val) variant of NOTCH2 (Q04721)
M84V (p.Met84Val) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data and structural context.
M84V (p.Met84Val) variant details
- p.Met84Val
- 1000Genomes rs587750639
- ExAC rs587750639
- TOPMed rs587750639
- gnomAD rs587750639
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.27
- CADD 19.00
- PolyPhen-2 0.47
- SIFT 0.36
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available