Q15H (p.Gln15His) variant of STAG2 (Cohesin subunit SA-2)
Q15H (p.Gln15His) in STAG2 (Cohesin subunit SA-2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q15H (p.Gln15His) variant details
- p.Gln15His
- NCI-TCGA Cosmic COSV9949
- cosmic curated COSV99492
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.257
- REVEL 0.06
- CADD 31.00
- PolyPhen-2 0.98
- SIFT 0.07
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available