R59* (p.Arg59Ter) variant of FSHR (P23945)
R59* (p.Arg59Ter) in FSHR (P23945) 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 0.87 / 1. The record also includes population frequency data and structural context.
R59* (p.Arg59Ter) variant details
- p.Arg59Ter
- rs1376736747
- NCI-TCGA Cosmic COSV5862
- cosmic curated COSV58626
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.868
- CADD 48.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available