Q35K (p.Gln35Lys) variant of STAG2 (Cohesin subunit SA-2)
Q35K (p.Gln35Lys) 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, published literature, and structural context.
Q35K (p.Gln35Lys) variant details
- p.Gln35Lys
- gnomAD X-124025898-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.296
- REVEL 0.06
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.97
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available
- Literature evidence available