A27A (p.Ala27Ala) variant of COL4A5 (Collagen alpha-5(IV) chain)
A27A (p.Ala27Ala) in COL4A5 (Collagen alpha-5(IV) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
A27A (p.Ala27Ala) variant details
- p.Ala27Ala
- rs1569469478
- gnomAD X-108440206-G-A
- Splice Region
- Variant Prioritization Score for Impact Estimate 0.678
- CADD 23.70
- Population evidence available
- Structural context available
- Literature evidence available