A3E (p.Ala3Glu) variant of COL6A1 (Collagen alpha-1(VI) chain)
A3E (p.Ala3Glu) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
A3E (p.Ala3Glu) variant details
- p.Ala3Glu
- gnomAD 21-45981858-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.17
- REVEL 0.14
- MetaLR 0.38
- MetaSVM -0.69
- CADD 8.17
- PolyPhen-2 0.06
- SIFT 0.28
- Population evidence available
- Structural context available
- Literature evidence available