H24Y (p.His24Tyr) variant of COL6A3 (Collagen alpha-3(VI) chain)
H24Y (p.His24Tyr) in COL6A3 (Collagen alpha-3(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Bethlem myopathy 1A; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
H24Y (p.His24Tyr) variant details
- p.His24Tyr
- rs769211133
- ClinGen CA2189962
- ClinVar RCV003145847
- ClinVar RCV005099392
- Conflicting interpretations
- Bethlem myopathy 1A; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.14
- MetaLR 0.46
- MetaSVM -0.56
- CADD 3.92
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (Bethlem myopathy 1A; not provided)
- EBI: Likely benign
- UniProt: Likely 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)