Q7* (p.Gln7Ter) variant of FKRP (Q9H9S5)
Q7* (p.Gln7Ter) in FKRP (Q9H9S5) 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 0.57 / 1. The record also includes population frequency data and structural context.
Q7* (p.Gln7Ter) variant details
- p.Gln7Ter
- rs2513984206
- ClinGen CA406494506
- ClinVar RCV002308725
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.567
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available