T7R (p.Thr7Arg) variant of COL1A2 (Collagen alpha-2(I) chain)
T7R (p.Thr7Arg) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
T7R (p.Thr7Arg) variant details
- p.Thr7Arg
- 1000Genomes rs543810166
- ExAC rs543810166
- TOPMed rs543810166
- gnomAD rs543810166
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.56
- CADD 22.40
- PolyPhen-2 0.26
- SIFT 0.19
- Most common in the HGDP:MIAO population (allele frequency 0.05)
- Structural context available