H20R (p.His20Arg) variant of STAG2 (Cohesin subunit SA-2)
H20R (p.His20Arg) 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 0.25 / 1. The record also includes population frequency data and structural context.
H20R (p.His20Arg) variant details
- p.His20Arg
- NCI-TCGA Cosmic COSV9949
- cosmic curated COSV99493
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.06
- CADD 19.00
- PolyPhen-2 0.00
- SIFT 0.42
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available