R52T (p.Arg52Thr) variant of COL1A2 (Collagen alpha-2(I) chain)
R52T (p.Arg52Thr) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
R52T (p.Arg52Thr) variant details
- p.Arg52Thr
- 1000Genomes rs561632203
- ExAC rs561632203
- gnomAD rs561632203
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.33
- CADD 15.20
- Most common in the 1KG:ESN population (allele frequency 0.0049)
- Structural context available