S22F (p.Ser22Phe) variant of STAG2 (Cohesin subunit SA-2)
S22F (p.Ser22Phe) in STAG2 (Cohesin subunit SA-2) is a missense 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 0.29 / 1. The record also includes population frequency data and structural context.
S22F (p.Ser22Phe) variant details
- p.Ser22Phe
- NCI-TCGA TCGA novel
- Variant assessed as somatic; high impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.07
- CADD 22.70
- PolyPhen-2 0.00
- SIFT 0.23
- UniProt: Variant assessed as somatic; high impact.
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available