V74A (p.Val74Ala) variant of COL6A2 (Collagen alpha-2(VI) chain)
V74A (p.Val74Ala) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
V74A (p.Val74Ala) variant details
- p.Val74Ala
- rs780700520
- ClinGen CA10071237
- ClinVar RCV003632959
- ExAC rs780700520
- Uncertain significance
- Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.57
- CADD 26.30
- PolyPhen-2 0.87
- SIFT 0.03
- ClinVar: Uncertain significance (Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.013)
- 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)