R876H (p.Arg876His) variant of COL6A2 (Collagen alpha-2(VI) chain)
R876H (p.Arg876His) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Ullrich congenital muscular dystrophy 1A; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
R876H (p.Arg876His) variant details
- p.Arg876His
- rs1012567148
- ClinGen CA321979833
- NCI-TCGA Cosmic COSV5243
- ClinVar RCV000584913
- Likely pathogenic
- not provided; Ullrich congenital muscular dystrophy 1A; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.95
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (not provided; Ullrich congenital muscular dystrophy 1A; Bethlem)
- EBI: Likely pathogenic (in UCMD1B)
- UniProt: Likely pathogenic (in UCMD1B)
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- 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)