L11L (p.Leu11Leu) variant of COL6A2 (Collagen alpha-2(VI) chain)
L11L (p.Leu11Leu) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
L11L (p.Leu11Leu) variant details
- p.Leu11Leu
- gnomAD 21-46111509-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.406
- CADD 4.92
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available
- Literature evidence available