E32K (p.Glu32Lys) variant of COL6A2 (Collagen alpha-2(VI) chain)
E32K (p.Glu32Lys) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
E32K (p.Glu32Lys) variant details
- p.Glu32Lys
- rs547648292
- ClinGen CA10071176
- cosmic curated COSV56002
- ClinVar RCV000306725
- Conflicting interpretations
- Inborn genetic diseases; not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.363
- REVEL 0.17
- CADD 14.10
- PolyPhen-2 0.02
- SIFT 0.53
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; not provided; Bethlem myopathy 1A)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)