Q8R (p.Gln8Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
Q8R (p.Gln8Arg) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
Q8R (p.Gln8Arg) variant details
- p.Gln8Arg
- gnomAD rs1940371665
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.18
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available