Y109* (p.Tyr109Ter) variant of NPHS1 (Nephrin)
Y109* (p.Tyr109Ter) in NPHS1 (Nephrin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
Y109* (p.Tyr109Ter) variant details
- p.Tyr109Ter
- ExAC rs779228955
- TOPMed rs779228955
- gnomAD rs779228955
- Likely benign
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.329
- CADD 35.00
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available