K17* (p.Lys17Ter) variant of COL4A4 (Collagen alpha-4(IV) chain)
K17* (p.Lys17Ter) in COL4A4 (Collagen alpha-4(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
K17* (p.Lys17Ter) variant details
- p.Lys17Ter
- rs770419378
- gnomAD 2-227010468-T-A
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.22
- MetaLR 0.56
- MetaSVM -0.42
- CADD 18.70
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available