T97I (p.Thr97Ile) variant of NOTCH2 (Q04721)
T97I (p.Thr97Ile) in NOTCH2 (Q04721) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
T97I (p.Thr97Ile) variant details
- p.Thr97Ile
- ExAC rs782699704
- gnomAD rs782699704
- Missense
- Variant Prioritization Score for Impact Estimate 0.518
- REVEL 0.41
- CADD 23.00
- PolyPhen-2 0.98
- SIFT 0.29
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available