L13L (p.Leu13Leu) variant of COL4A3 (Collagen alpha-3(IV) chain)
L13L (p.Leu13Leu) in COL4A3 (Collagen alpha-3(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L13L (p.Leu13Leu) variant details
- p.Leu13Leu
- rs1172751081
- gnomAD 2-227164765-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.216
- CADD 7.79
- Population evidence available
- Structural context available
- Literature evidence available