L57V (p.Leu57Val) variant of COL6A3 (Collagen alpha-3(VI) chain)
L57V (p.Leu57Val) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
L57V (p.Leu57Val) variant details
- p.Leu57Val
- rs765665120
- ClinGen CA2189925
- ClinVar RCV001888154
- ExAC rs765665120
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.61
- REVEL 0.55
- MetaLR 0.63
- MetaSVM -0.10
- CADD 23.30
- PolyPhen-2 0.83
- SIFT 0.07
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- 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)