T44I (p.Thr44Ile) variant of CRB1 (Protein crumbs homolog 1)
T44I (p.Thr44Ile) in CRB1 (Protein crumbs homolog 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
T44I (p.Thr44Ile) variant details
- p.Thr44Ile
- gnomAD 1-197328482-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.514
- REVEL 0.39
- MetaLR 0.74
- MetaSVM 0.09
- CADD 8.00
- PolyPhen-2 0.33
- SIFT 0.50
- Population evidence available
- Structural context available
- Literature evidence available