T63H (p.Thr63His) variant of COL6A2 (Collagen alpha-2(VI) chain)
T63H (p.Thr63His) in COL6A2 (Collagen alpha-2(VI) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
T63H (p.Thr63His) variant details
- p.Thr63His
- rs886041439
- gnomAD 21-46112044-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.366
- CADD 26.90
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available