Q26R (p.Gln26Arg) variant of COL2A1 (Collagen alpha-1(II) chain)
Q26R (p.Gln26Arg) in COL2A1 (Collagen alpha-1(II) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
Q26R (p.Gln26Arg) variant details
- p.Gln26Arg
- TOPMed rs1940368675
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.354
- REVEL 0.17
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available