L18L (p.Leu18Leu) variant of COL4A3 (Collagen alpha-3(IV) chain)
L18L (p.Leu18Leu) in COL4A3 (Collagen alpha-3(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
L18L (p.Leu18Leu) variant details
- p.Leu18Leu
- rs1245481661
- gnomAD 2-227164778-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.339
- CADD 9.84
- Population evidence available
- Structural context available
- Literature evidence available