L28C (p.Leu28Cys) variant of COL5A1 (Collagen alpha-1(V) chain)
L28C (p.Leu28Cys) in COL5A1 (Collagen alpha-1(V) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L28C (p.Leu28Cys) variant details
- p.Leu28Cys
- gnomAD 9-134642267-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.609
- CADD 29.90
- Population evidence available
- Structural context available
- Literature evidence available