L10L (p.Leu10Leu) variant of COL6A1 (Collagen alpha-1(VI) chain)
L10L (p.Leu10Leu) in COL6A1 (Collagen alpha-1(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L10L (p.Leu10Leu) variant details
- p.Leu10Leu
- rs770938233
- gnomAD 21-45981878-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.431
- CADD 12.30
- Most common in the South Asian population (allele frequency 3.6e-05)
- Structural context available
- Literature evidence available