L10A (p.Leu10Ala) variant of COL6A1 (Collagen alpha-1(VI) chain)
L10A (p.Leu10Ala) in COL6A1 (Collagen alpha-1(VI) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L10A (p.Leu10Ala) variant details
- p.Leu10Ala
- gnomAD 21-45981874-GCC-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.243
- CADD 22.90
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available