C18C (p.Cys18Cys) variant of COL1A2 (Collagen alpha-2(I) chain)
C18C (p.Cys18Cys) in COL1A2 (Collagen alpha-2(I) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
C18C (p.Cys18Cys) variant details
- p.Cys18Cys
- gnomAD 7-94395085-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 15.10
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available