L72L (p.Leu72Leu) variant of COL3A1 (Collagen alpha-1(III) chain)
L72L (p.Leu72Leu) in COL3A1 (Collagen alpha-1(III) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L72L (p.Leu72Leu) variant details
- p.Leu72Leu
- rs1688032482
- gnomAD 2-188984896-A-G
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.583
- CADD 12.60
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available