T115A (p.Thr115Ala) variant of COL6A3 (Collagen alpha-3(VI) chain)
T115A (p.Thr115Ala) in COL6A3 (Collagen alpha-3(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 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
T115A (p.Thr115Ala) variant details
- p.Thr115Ala
- rs2106388440
- ClinGen CA351227429
- ClinVar RCV002001178
- Ensembl rs2106388440
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.193
- REVEL 0.13
- MetaLR 0.22
- MetaSVM -0.89
- CADD 14.40
- PolyPhen-2 0.00
- SIFT 0.17
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-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)