L43P (p.Leu43Pro) variant of COL6A3 (Collagen alpha-3(VI) chain)
L43P (p.Leu43Pro) 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; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
L43P (p.Leu43Pro) variant details
- p.Leu43Pro
- rs2106388857
- ClinGen CA351228376
- ClinVar RCV003145826
- ClinVar RCV005099388
- Uncertain significance
- Bethlem myopathy 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.804
- REVEL 0.89
- MetaLR 0.84
- MetaSVM 0.91
- CADD 28.80
- SIFT 0.00
- ClinVar: Uncertain significance (Bethlem myopathy 1A; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- 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)