Q30* (p.Gln30Ter) variant of FKRP (Q9H9S5)
Q30* (p.Gln30Ter) 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 0.85 / 1. The record also includes population frequency data and structural context.
Q30* (p.Gln30Ter) variant details
- p.Gln30Ter
- rs2513984831
- ClinGen CA406494641
- ClinVar RCV003461573
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.853
- CADD 37.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available