T22A (p.Thr22Ala) variant of COL6A3 (Collagen alpha-3(VI) chain)
T22A (p.Thr22Ala) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
T22A (p.Thr22Ala) variant details
- p.Thr22Ala
- rs774784273
- ClinGen CA2189963
- cosmic curated COSV55083
- ClinVar RCV001364623
- Likely benign
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.203
- REVEL 0.20
- MetaLR 0.34
- MetaSVM -0.63
- CADD 8.36
- PolyPhen-2 0.00
- SIFT 0.80
- ClinVar: Likely benign (Bethlem myopathy 1A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- 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)