R15* (p.Arg15Ter) variant of NPHS2 (Podocin)
R15* (p.Arg15Ter) in NPHS2 (Podocin) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
R15* (p.Arg15Ter) variant details
- p.Arg15Ter
- cosmic curated COSV10889
- Ensembl rs1674747229
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.615
- CADD 34.00
- Most common in the Non-Finnish European population (allele frequency 9.5e-07)
- Structural context available