T29N (p.Thr29Asn) variant of COL1A2 (Collagen alpha-2(I) chain)
T29N (p.Thr29Asn) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T29N (p.Thr29Asn) variant details
- p.Thr29Asn
- gnomAD 7-94398386-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.15
- CADD 17.70
- PolyPhen-2 0.00
- SIFT 0.52
- Population evidence available
- Structural context available
- Literature evidence available