G35C (p.Gly35Cys) variant of COL6A3 (Collagen alpha-3(VI) chain)
G35C (p.Gly35Cys) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
G35C (p.Gly35Cys) variant details
- p.Gly35Cys
- ExAC rs778530814
- gnomAD rs778530814
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.43
- MetaLR 0.44
- MetaSVM -0.55
- CADD 24.40
- PolyPhen-2 0.88
- SIFT 0.06
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available