C34C (p.Cys34Cys) variant of COL6A1 (Collagen alpha-1(VI) chain)
C34C (p.Cys34Cys) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
C34C (p.Cys34Cys) variant details
- p.Cys34Cys
- rs373972331
- gnomAD 21-45982638-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.363
- CADD 14.90
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available
- Literature evidence available