D621N (p.Asp621Asn) variant of COL6A2 (Collagen alpha-2(VI) chain)
D621N (p.Asp621Asn) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature and structural context.
D621N (p.Asp621Asn) variant details
- p.Asp621Asn
- rs267606750
- ClinGen CA257724
- ClinVar RCV000018699
- ClinVar RCV000725485
- Pathogenic/Likely pathogenic
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.944
- AlphaMissense 1.00
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.83
- ClinVar: Pathogenic/Likely pathogenic (not provided; Bethlem myopathy 1A)
- EBI: Pathogenic (in BTHLM1B)
- UniProt: Pathogenic (in BTHLM1B)
- Structural context available
- Cited in: Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. (PMID 11865138)
- Cited in: Type VI collagen anchors endothelial basement membranes by interacting with type IV collagen. (PMID 9334230)