S54L (p.Ser54Leu) variant of COL6A2 (Collagen alpha-2(VI) chain)
S54L (p.Ser54Leu) 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 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
S54L (p.Ser54Leu) variant details
- p.Ser54Leu
- rs1252515693
- ClinGen CA410520080
- cosmic curated COSV10736
- ClinVar RCV001950112
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.88
- REVEL 0.95
- CADD 27.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- 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)