S27L (p.Ser27Leu) variant of COL6A2 (Collagen alpha-2(VI) chain)
S27L (p.Ser27Leu) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
S27L (p.Ser27Leu) variant details
- p.Ser27Leu
- rs150057026
- ClinGen CA10071169
- cosmic curated COSV56015
- ClinVar RCV000809351
- Conflicting interpretations
- Inborn genetic diseases; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.19
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.22
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Bethlem myopathy 1A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- 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)