L7L (p.Leu7Leu) variant of COL6A1 (Collagen alpha-1(VI) chain)
L7L (p.Leu7Leu) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L7L (p.Leu7Leu) variant details
- p.Leu7Leu
- rs1280132890
- gnomAD 21-45981869-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.292
- CADD 10.60
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available