Q3R (p.Gln3Arg) variant of COL6A2 (Collagen alpha-2(VI) chain)
Q3R (p.Gln3Arg) in COL6A2 (Collagen alpha-2(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.
Q3R (p.Gln3Arg) variant details
- p.Gln3Arg
- gnomAD 21-46111484-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.25
- CADD 0.11
- PolyPhen-2 0.00
- SIFT 0.79
- Population evidence available
- Structural context available
- Literature evidence available