S61P (p.Ser61Pro) variant of COL6A2 (Collagen alpha-2(VI) chain)
S61P (p.Ser61Pro) 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 not provided; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
S61P (p.Ser61Pro) variant details
- p.Ser61Pro
- rs990733473
- ClinGen CA321957147
- ClinVar RCV000594532
- ClinVar RCV000690523
- Uncertain significance
- not provided; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.22
- CADD 20.10
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (not provided; Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- 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)