P28S (p.Pro28Ser) variant of COL6A2 (Collagen alpha-2(VI) chain)
P28S (p.Pro28Ser) 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 not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
P28S (p.Pro28Ser) variant details
- p.Pro28Ser
- rs770089592
- ClinGen CA10071171
- ClinVar RCV002943017
- ClinVar RCV003491175
- Uncertain significance
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.11
- CADD 11.10
- PolyPhen-2 0.01
- SIFT 0.08
- ClinVar: Uncertain significance (not provided; Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- 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)