E90K (p.Glu90Lys) variant of COL6A3 (Collagen alpha-3(VI) chain)
E90K (p.Glu90Lys) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
E90K (p.Glu90Lys) variant details
- p.Glu90Lys
- gnomAD rs2078397365
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.76
- MetaLR 0.79
- MetaSVM 0.28
- CADD 25.80
- PolyPhen-2 0.87
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available