T53T (p.Thr53Thr) variant of COL6A2 (Collagen alpha-2(VI) chain)
T53T (p.Thr53Thr) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
T53T (p.Thr53Thr) variant details
- p.Thr53Thr
- rs2123614218
- gnomAD 21-46112022-C-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.101
- CADD 2.93
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available
- Literature evidence available