L38L (p.Leu38Leu) variant of COL6A1 (Collagen alpha-1(VI) chain)
L38L (p.Leu38Leu) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
L38L (p.Leu38Leu) variant details
- p.Leu38Leu
- rs748478347
- gnomAD 21-45982648-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.309
- CADD 15.40
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available