S2* (p.Ser2Ter) variant of SIX1 (Homeobox protein SIX1)
S2* (p.Ser2Ter) in SIX1 (Homeobox protein SIX1) 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 0.86 / 1. The record also includes population frequency data, experimental measurements, and structural context.
S2* (p.Ser2Ter) variant details
- p.Ser2Ter
- NCI-TCGA Cosmic COSV5595
- cosmic curated COSV55959
- Ensembl rs1895013306
- Variant assessed as somatic; high impact.
- Stop Gained
- Variant Prioritization Score for Impact Estimate 0.857
- CADD 37.00
- UniProt: Variant assessed as somatic; high impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- SIX1 Homeobox domain domainome 1.0: score 0.212