D21H (p.Asp21His) variant of COL6A1 (Collagen alpha-1(VI) chain)
D21H (p.Asp21His) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
D21H (p.Asp21His) variant details
- p.Asp21His
- rs1421011932
- ClinGen CA410513960
- ClinVar RCV003632494
- ClinVar RCV005545081
- Uncertain significance
- Inborn genetic diseases; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.485
- REVEL 0.37
- CADD 23.80
- PolyPhen-2 0.65
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases; Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)