L67F (p.Leu67Phe) variant of COL6A2 (Collagen alpha-2(VI) chain)
L67F (p.Leu67Phe) 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 Inborn genetic diseases; not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
L67F (p.Leu67Phe) variant details
- p.Leu67Phe
- rs2078406730
- ClinGen CA410520230
- ClinVar RCV001325241
- ClinVar RCV003166907
- Uncertain significance
- Inborn genetic diseases; not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.37
- CADD 25.30
- PolyPhen-2 0.81
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Bethlem myopathy 1A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)