V50M (p.Val50Met) variant of COL6A2 (Collagen alpha-2(VI) chain)
V50M (p.Val50Met) in COL6A2 (Collagen alpha-2(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V50M (p.Val50Met) variant details
- p.Val50Met
- rs727502826
- ClinGen CA295261
- cosmic curated COSV10881
- ClinVar RCV000662155
- Uncertain significance
- Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.714
- REVEL 0.68
- AlphaMissense 0.53
- MetaLR 0.70
- MetaSVM 0.41
- CADD 25.80
- PolyPhen-2 1.00
- ClinVar: Uncertain significance (Bethlem myopathy 1A; Ullrich congenital muscular dystrophy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-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)