F73L (p.Phe73Leu) variant of COL6A2 (Collagen alpha-2(VI) chain)
F73L (p.Phe73Leu) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar, EBI, 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 0.47 / 1. The record also includes population frequency data and structural context.
F73L (p.Phe73Leu) variant details
- p.Phe73Leu
- 1000Genomes rs374336669
- ESP rs374336669
- ExAC rs374336669
- TOPMed rs374336669
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.474
- REVEL 0.65
- CADD 22.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Benign
- UniProt: Benign
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available