Q60P (p.Gln60Pro) variant of COL6A2 (Collagen alpha-2(VI) chain)
Q60P (p.Gln60Pro) 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 See cases; Bethlem myopathy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes published literature and structural context.
Q60P (p.Gln60Pro) variant details
- p.Gln60Pro
- rs147892526
- ClinGen CA410520154
- ClinVar RCV002046021
- ClinVar RCV002252755
- Uncertain significance
- See cases; Bethlem myopathy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.603
- AlphaMissense 0.22
- MetaLR 0.66
- MetaSVM 0.39
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.66
- ClinVar: Uncertain significance (See cases; Bethlem myopathy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)