V58V (p.Val58Val) variant of COL4A4 (Collagen alpha-4(IV) chain)
V58V (p.Val58Val) in COL4A4 (Collagen alpha-4(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
V58V (p.Val58Val) variant details
- p.Val58Val
- rs141793628
- gnomAD 2-227008237-C-T
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.225
- CADD 9.14
- Most common in the 1KG:YRI population (allele frequency 0.0086)
- Structural context available
- Literature evidence available