T5T (p.Thr5Thr) variant of COL6A2 (Collagen alpha-2(VI) chain)
T5T (p.Thr5Thr) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
T5T (p.Thr5Thr) variant details
- p.Thr5Thr
- gnomAD 21-46111491-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.229
- CADD 2.73
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available