K21* (p.Lys21Ter) variant of HNRNPU (Q00839)
K21* (p.Lys21Ter) in HNRNPU (Q00839) 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 0.69 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K21* (p.Lys21Ter) variant details
- p.Lys21Ter
- ExAC rs777663267
- gnomAD rs777663267
- Likely pathogenic
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.686
- CADD 36.00
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Structural context available
- HNRNPU SAP domain domainome 1.0: score -0.398