V29M (p.Val29Met) variant of COL6A1 (Collagen alpha-1(VI) chain)
V29M (p.Val29Met) 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; not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V29M (p.Val29Met) variant details
- p.Val29Met
- rs766057159
- ClinGen CA10069435
- ClinVar RCV000689329
- ClinVar RCV003144500
- Uncertain significance
- Inborn genetic diseases; not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.24
- CADD 12.50
- PolyPhen-2 0.66
- SIFT 0.14
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.5e-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)