K39R (p.Lys39Arg) variant of STAG2 (Cohesin subunit SA-2)
K39R (p.Lys39Arg) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
K39R (p.Lys39Arg) variant details
- p.Lys39Arg
- TOPMed rs950567395
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.10
- CADD 23.10
- PolyPhen-2 0.98
- SIFT 0.64
- Most common in the Non-Finnish European population (allele frequency 3.1e-05)
- Structural context available