L8L (p.Leu8Leu) variant of COL6A1 (Collagen alpha-1(VI) chain)
L8L (p.Leu8Leu) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
L8L (p.Leu8Leu) variant details
- p.Leu8Leu
- gnomAD 21-45981872-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.546
- CADD 11.80
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available