T25N (p.Thr25Asn) variant of COL6A1 (Collagen alpha-1(VI) chain)
T25N (p.Thr25Asn) 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 not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
T25N (p.Thr25Asn) variant details
- p.Thr25Asn
- rs767205402
- ClinGen CA10069432
- ClinVar RCV000338991
- ClinVar RCV002518061
- Conflicting interpretations
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.103
- REVEL 0.13
- CADD 0.30
- PolyPhen-2 0.00
- SIFT 0.53
- ClinVar: Conflicting classifications of pathogenicity (not provided; Bethlem myopathy 1A)
- EBI: Benign
- UniProt: Benign
- Most common in the Latino/Admixed American population (allele frequency 9e-05)
- 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)