T78I (p.Thr78Ile) variant of NOTCH2 (Q04721)
T78I (p.Thr78Ile) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
T78I (p.Thr78Ile) variant details
- p.Thr78Ile
- Ensembl rs2101242909
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.28
- CADD 24.60
- PolyPhen-2 0.98
- SIFT 0.01
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available