Q15R (p.Gln15Arg) variant of STAG2 (Cohesin subunit SA-2)
Q15R (p.Gln15Arg) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
Q15R (p.Gln15Arg) variant details
- p.Gln15Arg
- ExAC rs776231686
- gnomAD rs776231686
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.13
- CADD 22.90
- PolyPhen-2 0.89
- SIFT 0.30
- Most common in the Non-Finnish European population (allele frequency 1.3e-06)
- Structural context available