L10R (p.Leu10Arg) variant of COL6A2 (Collagen alpha-2(VI) chain)
L10R (p.Leu10Arg) 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; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
L10R (p.Leu10Arg) variant details
- p.Leu10Arg
- rs1322695807
- ClinGen CA410519125
- ClinVar RCV003632417
- ClinVar RCV004980946
- Uncertain significance
- Inborn genetic diseases; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.56
- CADD 22.70
- PolyPhen-2 0.03
- SIFT 0.01
- ClinVar: Uncertain significance (Inborn genetic diseases; Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)