R8Q (p.Arg8Gln) variant of COL4A3 (Collagen alpha-3(IV) chain)
R8Q (p.Arg8Gln) in COL4A3 (Collagen alpha-3(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- gnomAD 2-227164742-G-GC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.293
- CADD 20.50
- Population evidence available
- Structural context available
- Literature evidence available