P73L (p.Pro73Leu) variant of COL4A5 (Collagen alpha-5(IV) chain)
P73L (p.Pro73Leu) in COL4A5 (Collagen alpha-5(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data, published literature, and structural context.
P73L (p.Pro73Leu) variant details
- p.Pro73Leu
- gnomAD X-108559134-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.588
- CADD 22.30
- Population evidence available
- Structural context available
- Literature evidence available