L80V (p.Leu80Val) variant of COL6A3 (Collagen alpha-3(VI) chain)
L80V (p.Leu80Val) in COL6A3 (Collagen alpha-3(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; Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
L80V (p.Leu80Val) variant details
- p.Leu80Val
- rs777869450
- ClinGen CA2189911
- ClinVar RCV001955430
- ExAC rs777869450
- Uncertain significance
- Bethlem myopathy 1A; Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.36
- MetaLR 0.21
- MetaSVM -0.81
- CADD 16.50
- PolyPhen-2 0.23
- SIFT 0.25
- ClinVar: Uncertain significance (Bethlem myopathy 1A; Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)