E24D (p.Glu24Asp) variant of COL6A1 (Collagen alpha-1(VI) chain)
E24D (p.Glu24Asp) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
E24D (p.Glu24Asp) variant details
- p.Glu24Asp
- gnomAD 21-45981922-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.179
- REVEL 0.19
- MetaLR 0.41
- MetaSVM -0.56
- CADD 0.19
- PolyPhen-2 0.00
- SIFT 0.64
- Population evidence available
- Structural context available
- Literature evidence available