C18Y (p.Cys18Tyr) variant of COL1A2 (Collagen alpha-2(I) chain)
C18Y (p.Cys18Tyr) in COL1A2 (Collagen alpha-2(I) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
C18Y (p.Cys18Tyr) variant details
- p.Cys18Tyr
- gnomAD rs1791556058
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.23
- CADD 19.70
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available