T29A (p.Thr29Ala) variant of COL1A2 (Collagen alpha-2(I) chain)
T29A (p.Thr29Ala) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
T29A (p.Thr29Ala) variant details
- p.Thr29Ala
- gnomAD 7-94398385-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.15
- CADD 15.00
- PolyPhen-2 0.01
- SIFT 0.77
- Population evidence available
- Structural context available
- Literature evidence available