E24E (p.Glu24Glu) variant of COL6A2 (Collagen alpha-2(VI) chain)
E24E (p.Glu24Glu) in COL6A2 (Collagen alpha-2(VI) chain) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
E24E (p.Glu24Glu) variant details
- p.Glu24Glu
- gnomAD 21-46111548-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.437
- CADD 6.87
- Population evidence available
- Structural context available
- Literature evidence available