L2L (p.Leu2Leu) variant of COL1A2 (Collagen alpha-2(I) chain)
L2L (p.Leu2Leu) in COL1A2 (Collagen alpha-2(I) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
L2L (p.Leu2Leu) variant details
- p.Leu2Leu
- gnomAD 7-94395037-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.672
- CADD 14.40
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available