L12L (p.Leu12Leu) variant of COL4A3 (Collagen alpha-3(IV) chain)
L12L (p.Leu12Leu) in COL4A3 (Collagen alpha-3(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
L12L (p.Leu12Leu) variant details
- p.Leu12Leu
- rs1189095338
- gnomAD 2-227164762-C-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.515
- CADD 7.72
- Population evidence available
- Structural context available
- Literature evidence available