K47R (p.Lys47Arg) variant of COL4A5 (Collagen alpha-5(IV) chain)
K47R (p.Lys47Arg) in COL4A5 (Collagen alpha-5(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
K47R (p.Lys47Arg) variant details
- p.Lys47Arg
- gnomAD X-108539800-GA-G
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.366
- CADD 26.00
- Population evidence available
- Structural context available
- Literature evidence available