H88Y (p.His88Tyr) variant of COL6A3 (Collagen alpha-3(VI) chain)
H88Y (p.His88Tyr) 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 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
H88Y (p.His88Tyr) variant details
- p.His88Tyr
- rs773999183
- ClinGen CA2189903
- ClinVar RCV000814642
- ExAC rs773999183
- Likely benign
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.63
- MetaLR 0.46
- MetaSVM -0.50
- CADD 22.40
- PolyPhen-2 0.58
- SIFT 0.01
- ClinVar: Likely benign (Bethlem myopathy 1A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-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)