Q53* (p.Gln53Ter) variant of ITGA6 (Integrin alpha-6)
Q53* (p.Gln53Ter) in ITGA6 (Integrin alpha-6) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data and structural context.
Q53* (p.Gln53Ter) variant details
- p.Gln53Ter
- ESP rs374272135
- ExAC rs374272135
- TOPMed rs374272135
- gnomAD rs374272135
- Uncertain significance
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.866
- CADD 47.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available