K8E (p.Lys8Glu) variant of COL5A1 (Collagen alpha-1(V) chain)
K8E (p.Lys8Glu) in COL5A1 (Collagen alpha-1(V) chain) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
K8E (p.Lys8Glu) variant details
- p.Lys8Glu
- gnomAD 9-134642206-T-TG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.634
- CADD 31.00
- Population evidence available
- Structural context available
- Literature evidence available