p.Leu27 Leu28del variant of COL5A1 (Collagen alpha-1(V) chain)
p.Leu27 Leu28del in COL5A1 (Collagen alpha-1(V) chain) is a missense 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.
p.Leu27 Leu28del variant details
- gnomAD 9-134642252-CGCTG
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.285
- CADD 19.30
- Population evidence available
- Structural context available
- Literature evidence available