T98A (p.Thr98Ala) variant of COL6A3 (Collagen alpha-3(VI) chain)
T98A (p.Thr98Ala) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
T98A (p.Thr98Ala) variant details
- p.Thr98Ala
- rs76646066
- ClinGen CA67842257
- ClinVar RCV002995949
- 1000Genomes rs76646066
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.14
- MetaLR 0.27
- MetaSVM -0.81
- CADD 17.20
- PolyPhen-2 0.01
- SIFT 0.15
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Benign
- UniProt: Benign
- Most common in the African/African-American population (allele frequency 0.00012)
- 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)