Q60R (p.Gln60Arg) variant of COL6A2 (Collagen alpha-2(VI) chain)
Q60R (p.Gln60Arg) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
Q60R (p.Gln60Arg) variant details
- p.Gln60Arg
- ESP rs147892526
- ExAC rs147892526
- TOPMed rs147892526
- gnomAD rs147892526
- Benign
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.60
- AlphaMissense 0.22
- MetaLR 0.66
- MetaSVM 0.39
- CADD 24.10
- PolyPhen-2 1.00
- ClinVar: Benign (Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available