M84I (p.Met84Ile) variant of NOTCH2 (Q04721)
M84I (p.Met84Ile) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
M84I (p.Met84Ile) variant details
- p.Met84Ile
- gnomAD rs1439968793
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.20
- CADD 21.00
- PolyPhen-2 0.47
- SIFT 0.23
- Population evidence available
- Structural context available