Y48Y (p.Tyr48Tyr) variant of COL6A2 (Collagen alpha-2(VI) chain)
Y48Y (p.Tyr48Tyr) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
Y48Y (p.Tyr48Tyr) variant details
- p.Tyr48Tyr
- rs1158417696
- gnomAD 21-46112007-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.372
- CADD 9.16
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available