P28R (p.Pro28Arg) variant of COL6A2 (Collagen alpha-2(VI) chain)
P28R (p.Pro28Arg) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data, published literature, and structural context.
P28R (p.Pro28Arg) variant details
- p.Pro28Arg
- rs778546141
- ClinGen CA410519499
- ClinVar RCV000820571
- ExAC rs778546141
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.37
- REVEL 0.23
- CADD 14.30
- PolyPhen-2 0.41
- SIFT 0.12
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)