E32* (p.Glu32Ter) variant of COL6A2 (Collagen alpha-2(VI) chain)
E32* (p.Glu32Ter) in COL6A2 (Collagen alpha-2(VI) chain) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and structural context.
E32* (p.Glu32Ter) variant details
- p.Glu32Ter
- rs547648292
- ClinGen CA410519570
- ClinVar RCV000520825
- 1000Genomes rs547648292
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.799
- CADD 35.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available