R58* (p.Arg58Ter) variant of EPAS1 (Q99814)
R58* (p.Arg58Ter) in EPAS1 (Q99814) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
R58* (p.Arg58Ter) variant details
- p.Arg58Ter
- NCI-TCGA Cosmic COSV5538
- Ensembl rs2103616311
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 36.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available