Q81* (p.Gln81Ter) variant of EYA1 (Protein phosphatase EYA1)
Q81* (p.Gln81Ter) in EYA1 (Protein phosphatase EYA1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Q81* (p.Gln81Ter) variant details
- p.Gln81Ter
- rs1554550637
- ClinGen CA371468924
- ClinVar RCV000600507
- Ensembl rs1554550637
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available