V57I (p.Val57Ile) variant of COL6A2 (Collagen alpha-2(VI) chain)
V57I (p.Val57Ile) 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; Bethlem myopathy 1A; Myosclerosis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
V57I (p.Val57Ile) variant details
- p.Val57Ile
- rs768434256
- ClinGen CA10071224
- NCI-TCGA Cosmic COSV5599
- cosmic curated COSV55998
- Conflicting interpretations
- Inborn genetic diseases; Bethlem myopathy 1A; Myosclerosis
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.20
- CADD 14.30
- PolyPhen-2 0.10
- SIFT 0.97
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Bethlem myopathy 1A; Myosclerosis)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 0.00031)
- 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)