P26L (p.Pro26Leu) variant of COL6A1 (Collagen alpha-1(VI) chain)
P26L (p.Pro26Leu) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Bethlem myopathy 1A; not provided. 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.
P26L (p.Pro26Leu) variant details
- p.Pro26Leu
- rs150165253
- ClinGen CA10069433
- ClinVar RCV003145755
- ClinVar RCV006473703
- Conflicting interpretations
- Bethlem myopathy 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.23
- CADD 12.00
- PolyPhen-2 0.06
- SIFT 0.23
- ClinVar: Conflicting classifications of pathogenicity (Bethlem myopathy 1A; not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:TSI population (allele frequency 0.0049)
- 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)