R876S (p.Arg876Ser) variant of COL6A2 (Collagen alpha-2(VI) chain)
R876S (p.Arg876Ser) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Ullrich congenital muscular dystrophy 1B. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data, published literature, and structural context.
R876S (p.Arg876Ser) variant details
- p.Arg876Ser
- rs387906608
- ClinGen CA259615
- ClinVar RCV003764619
- UniProt VAR 058238
- Pathogenic
- Ullrich congenital muscular dystrophy 1B
- Missense
- Variant Prioritization Score for Impact Estimate 0.794
- REVEL 0.89
- CADD 24.40
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Ullrich congenital muscular dystrophy 1B)
- EBI: Pathogenic (in UCMD1B)
- UniProt: Pathogenic (in UCMD1B)
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- Cited in: Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular… (PMID 15689448)
- Cited in: Recessive COL6A2 C-globular missense mutations in Ullrich congenital muscular dystrophy: role of the C2a splice variant. (PMID 20106987)