L13L (p.Leu13Leu) variant of COL3A1 (Collagen alpha-1(III) chain)
L13L (p.Leu13Leu) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data, published literature, and structural context.
L13L (p.Leu13Leu) variant details
- p.Leu13Leu
- rs1343634872
- gnomAD 2-188974528-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.114
- CADD 4.76
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available