C37C (p.Cys37Cys) variant of COL6A2 (Collagen alpha-2(VI) chain)
C37C (p.Cys37Cys) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
C37C (p.Cys37Cys) variant details
- p.Cys37Cys
- rs986393872
- gnomAD 21-46111587-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.314
- CADD 11.70
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available
- Literature evidence available