G290E (p.Gly290Glu) variant of COL6A1 (Collagen alpha-1(VI) chain)
G290E (p.Gly290Glu) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature.
G290E (p.Gly290Glu) variant details
- p.Gly290Glu
- rs1603590637
- ClinGen CA410521752
- ClinVar RCV000990364
- ClinVar RCV001531974
- Pathogenic
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.927
- AlphaMissense 0.99
- MetaLR 0.99
- MetaSVM 0.97
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.75
- ClinVar: Pathogenic (not provided; Bethlem myopathy 1A)
- EBI: Pathogenic (in BTHLM1A and UCMD1A)
- UniProt: Pathogenic (in BTHLM1A and UCMD1A)
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)