L14L (p.Leu14Leu) variant of COL4A3 (Collagen alpha-3(IV) chain)
L14L (p.Leu14Leu) in COL4A3 (Collagen alpha-3(IV) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
L14L (p.Leu14Leu) variant details
- p.Leu14Leu
- gnomAD 2-227164766-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.645
- CADD 9.25
- Population evidence available
- Structural context available
- Literature evidence available