T29P (p.Thr29Pro) variant of COL1A2 (Collagen alpha-2(I) chain)
T29P (p.Thr29Pro) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
T29P (p.Thr29Pro) variant details
- p.Thr29Pro
- gnomAD 7-94398385-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- REVEL 0.34
- CADD 17.80
- PolyPhen-2 0.00
- SIFT 0.33
- Population evidence available
- Structural context available
- Literature evidence available