E24V (p.Glu24Val) variant of COL6A1 (Collagen alpha-1(VI) chain)
E24V (p.Glu24Val) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
E24V (p.Glu24Val) variant details
- p.Glu24Val
- gnomAD 21-45981921-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.21
- MetaLR 0.34
- MetaSVM -0.74
- CADD 3.11
- PolyPhen-2 0.00
- SIFT 0.77
- Population evidence available
- Structural context available
- Literature evidence available