G296R (p.Gly296Arg) variant of COL6A1 (Collagen alpha-1(VI) chain)
G296R (p.Gly296Arg) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.91 / 1. The record also includes population frequency data.
G296R (p.Gly296Arg) variant details
- p.Gly296Arg
- ESP rs369357062
- ExAC rs369357062
- gnomAD rs369357062
- Likely pathogenic
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.911
- REVEL 0.98
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Bethlem myopathy 1A)
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)