K29K (p.Lys29Lys) variant of COL4A3 (Collagen alpha-3(IV) chain)
K29K (p.Lys29Lys) in COL4A3 (Collagen alpha-3(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
K29K (p.Lys29Lys) variant details
- p.Lys29Lys
- rs2065153716
- gnomAD 2-227164813-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.725
- CADD 23.20
- Population evidence available
- Structural context available
- Literature evidence available