Q29H (p.Gln29His) variant of COL6A3 (Collagen alpha-3(VI) chain)
Q29H (p.Gln29His) 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 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
Q29H (p.Gln29His) variant details
- p.Gln29His
- rs775946239
- ClinGen CA351229108
- cosmic curated COSV55115
- ClinVar RCV001225508
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.14
- MetaLR 0.49
- MetaSVM -0.45
- CADD 14.70
- PolyPhen-2 0.00
- SIFT 0.27
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- 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)