E52K (p.Glu52Lys) variant of COL6A3 (Collagen alpha-3(VI) chain)
E52K (p.Glu52Lys) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
E52K (p.Glu52Lys) variant details
- p.Glu52Lys
- rs188510971
- ClinGen CA67842512
- NCI-TCGA Cosmic COSV9980
- ClinVar RCV001982017
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- REVEL 0.13
- MetaLR 0.19
- MetaSVM -0.94
- CADD 15.00
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0007)
- 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)