Q28* (p.Gln28Ter) variant of FKRP (Q9H9S5)
Q28* (p.Gln28Ter) in FKRP (Q9H9S5) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
Q28* (p.Gln28Ter) variant details
- p.Gln28Ter
- rs2513984747
- ClinGen CA2739276923
- ClinVar RCV003755664
- Pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.849
- CADD 37.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available