L67L (p.Leu67Leu) variant of COL6A2 (Collagen alpha-2(VI) chain)
L67L (p.Leu67Leu) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data, published literature, and structural context.
L67L (p.Leu67Leu) variant details
- p.Leu67Leu
- rs1601216910
- gnomAD 21-46112064-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0925
- CADD 1.68
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available