R27W (p.Arg27Trp) variant of COL6A1 (Collagen alpha-1(VI) chain)
R27W (p.Arg27Trp) in COL6A1 (Collagen alpha-1(VI) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Ullrich congenital muscular dystrophy 1A. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and published literature.
R27W (p.Arg27Trp) variant details
- p.Arg27Trp
- rs1031520613
- ClinGen CA410514066
- ClinVar RCV001334957
- TOPMed rs1031520613
- Uncertain significance
- Ullrich congenital muscular dystrophy 1A
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.29
- CADD 24.00
- PolyPhen-2 0.84
- SIFT 0.00
- ClinVar: Uncertain significance (Ullrich congenital muscular dystrophy 1A)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)
- Cited in: Consensus statement on standard of care for congenital muscular dystrophies. (PMID 21078917)