H4L (p.His4Leu) variant of COL6A3 (Collagen alpha-3(VI) chain)
H4L (p.His4Leu) 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 not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
H4L (p.His4Leu) variant details
- p.His4Leu
- rs777465480
- ClinGen CA10604184
- ClinVar RCV000326714
- ClinVar RCV001320936
- Conflicting interpretations
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.546
- REVEL 0.56
- MetaLR 0.75
- MetaSVM 0.20
- CADD 26.00
- PolyPhen-2 0.92
- SIFT 0.50
- ClinVar: Conflicting classifications of pathogenicity (not provided; Bethlem myopathy 1A)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YAKUT population (allele frequency 0.04)
- 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)