Q32H (p.Gln32His) variant of COL6A1 (Collagen alpha-1(VI) chain)
Q32H (p.Gln32His) in COL6A1 (Collagen alpha-1(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 0.53 / 1. The record also includes population frequency data and structural context.
Q32H (p.Gln32His) variant details
- p.Gln32His
- NCI-TCGA TCGA novel
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.46
- CADD 21.90
- PolyPhen-2 0.93
- SIFT 0.02
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available