M84T (p.Met84Thr) variant of NOTCH2 (Q04721)
M84T (p.Met84Thr) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
M84T (p.Met84Thr) variant details
- p.Met84Thr
- TOPMed rs1353659503
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.26
- CADD 19.80
- PolyPhen-2 0.67
- SIFT 0.60
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available