T67I (p.Thr67Ile) variant of CHD7 (Q9P2D1)
T67I (p.Thr67Ile) in CHD7 (Q9P2D1) 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, published literature, and structural context.
T67I (p.Thr67Ile) variant details
- p.Thr67Ile
- gnomAD 8-60741632-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.10
- MetaLR 0.11
- MetaSVM -0.94
- CADD 22.80
- PolyPhen-2 0.16
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available