L27A (p.Leu27Ala) variant of COL5A1 (Collagen alpha-1(V) chain)
L27A (p.Leu27Ala) in COL5A1 (Collagen alpha-1(V) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L27A (p.Leu27Ala) variant details
- p.Leu27Ala
- gnomAD 9-134642264-TGC-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.381
- CADD 27.80
- Population evidence available
- Structural context available
- Literature evidence available