K39T (p.Lys39Thr) variant of STAG2 (Cohesin subunit SA-2)
K39T (p.Lys39Thr) 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, published literature, and structural context.
K39T (p.Lys39Thr) variant details
- p.Lys39Thr
- gnomAD X-124025911-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.13
- CADD 24.10
- PolyPhen-2 0.99
- SIFT 0.18
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available