D871N (p.Asp871Asn) variant of COL6A2 (Collagen alpha-2(VI) chain)
D871N (p.Asp871Asn) 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; Collagen 6-related myopathy; Ullrich congenital muscular dystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
D871N (p.Asp871Asn) variant details
- p.Asp871Asn
- rs387906610
- ClinGen CA128533
- NCI-TCGA Cosmic COSV5243
- ClinVar RCV000591047
- Pathogenic/Likely pathogenic
- not provided; Collagen 6-related myopathy; Ullrich congenital muscular dystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.61
- CADD 26.30
- PolyPhen-2 1.00
- SIFT 0.01
- ClinVar: Pathogenic/Likely pathogenic (not provided; Collagen 6-related myopathy; Ullrich congenital mu)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Autosomal recessive Bethlem myopathy. (PMID 19949035)
- Cited in: Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the… (PMID 25533456)