C6C (p.Cys6Cys) variant of COL6A2 (Collagen alpha-2(VI) chain)
C6C (p.Cys6Cys) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
C6C (p.Cys6Cys) variant details
- p.Cys6Cys
- gnomAD 21-46111494-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.204
- CADD 6.51
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available