R27G (p.Arg27Gly) variant of COL6A1 (Collagen alpha-1(VI) chain)
R27G (p.Arg27Gly) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data.
R27G (p.Arg27Gly) variant details
- p.Arg27Gly
- TOPMed rs1031520613
- gnomAD rs1031520613
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.18
- CADD 18.60
- PolyPhen-2 0.19
- SIFT 0.08
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)