T29S (p.Thr29Ser) variant of COL1A2 (Collagen alpha-2(I) chain)
T29S (p.Thr29Ser) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
T29S (p.Thr29Ser) variant details
- p.Thr29Ser
- gnomAD 7-94398385-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.215
- REVEL 0.17
- CADD 13.60
- PolyPhen-2 0.00
- SIFT 0.78
- Population evidence available
- Structural context available
- Literature evidence available