T63T (p.Thr63Thr) variant of COL6A2 (Collagen alpha-2(VI) chain)
T63T (p.Thr63Thr) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
T63T (p.Thr63Thr) variant details
- p.Thr63Thr
- rs143583433
- gnomAD 21-46112052-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0905
- CADD 1.39
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available