Q8K (p.Gln8Lys) variant of COL2A1 (Collagen alpha-1(II) chain)
Q8K (p.Gln8Lys) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
Q8K (p.Gln8Lys) variant details
- p.Gln8Lys
- gnomAD rs1369890473
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.20
- CADD 19.50
- PolyPhen-2 0.00
- SIFT 0.41
- Population evidence available
- Structural context available