I18M (p.Ile18Met) variant of COL6A2 (Collagen alpha-2(VI) chain)
I18M (p.Ile18Met) 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 Collagen 6-related myopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
I18M (p.Ile18Met) variant details
- p.Ile18Met
- rs199902438
- ClinGen CA321957030
- ClinVar RCV001138775
- gnomAD rs199902438
- Uncertain significance
- Collagen 6-related myopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.189
- REVEL 0.11
- CADD 10.90
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Uncertain significance (Collagen 6-related myopathy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Cited in: Collagen VI-Related Dystrophies. (PMID 20301676)