K53R (p.Lys53Arg) variant of STAG2 (Cohesin subunit SA-2)
K53R (p.Lys53Arg) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K53R (p.Lys53Arg) variant details
- p.Lys53Arg
- TOPMed rs1328419748
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.16
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 0.31
- Population evidence available
- Structural context available