L19L (p.Leu19Leu) variant of COL1A2 (Collagen alpha-2(I) chain)
L19L (p.Leu19Leu) in COL1A2 (Collagen alpha-2(I) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
L19L (p.Leu19Leu) variant details
- p.Leu19Leu
- rs971349366
- gnomAD 7-94395086-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.512
- CADD 13.80
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available