L10L (p.Leu10Leu) variant of COL6A2 (Collagen alpha-2(VI) chain)
L10L (p.Leu10Leu) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L10L (p.Leu10Leu) variant details
- p.Leu10Leu
- gnomAD 21-46111504-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 8.49
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available