W26* (p.Trp26Ter) variant of FKRP (Q9H9S5)
W26* (p.Trp26Ter) 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 0.88 / 1. The record also includes population frequency data and structural context.
W26* (p.Trp26Ter) variant details
- p.Trp26Ter
- rs2513984718
- ClinVar RCV004576605
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.883
- CADD 44.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available