V10A (p.Val10Ala) variant of COL6A3 (Collagen alpha-3(VI) chain)
V10A (p.Val10Ala) 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 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
V10A (p.Val10Ala) variant details
- p.Val10Ala
- rs766458324
- ClinGen CA2189968
- ClinVar RCV000732942
- ClinVar RCV002535302
- Conflicting interpretations
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.37
- MetaLR 0.54
- MetaSVM -0.47
- CADD 21.80
- PolyPhen-2 0.01
- SIFT 0.50
- ClinVar: Conflicting classifications of pathogenicity (not provided; Bethlem myopathy 1A)
- EBI: Benign
- UniProt: Benign
- Most common in the South Asian population (allele frequency 1.2e-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)