L12L (p.Leu12Leu) variant of COL3A1 (Collagen alpha-1(III) chain)
L12L (p.Leu12Leu) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- rs781047496
- gnomAD 2-188974525-T-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.255
- CADD 12.40
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available