T9I (p.Thr9Ile) variant of COL1A2 (Collagen alpha-2(I) chain)
T9I (p.Thr9Ile) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
T9I (p.Thr9Ile) variant details
- p.Thr9Ile
- gnomAD 7-94395057-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.22
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.43
- Population evidence available
- Structural context available
- Literature evidence available