T29I (p.Thr29Ile) variant of COL1A2 (Collagen alpha-2(I) chain)
T29I (p.Thr29Ile) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
T29I (p.Thr29Ile) variant details
- p.Thr29Ile
- gnomAD 7-94398386-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.273
- REVEL 0.17
- CADD 21.10
- PolyPhen-2 0.00
- SIFT 0.21
- Population evidence available
- Structural context available
- Literature evidence available