N34K (p.Asn34Lys) variant of STAG2 (Cohesin subunit SA-2)
N34K (p.Asn34Lys) in STAG2 (Cohesin subunit SA-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data, published literature, and structural context.
N34K (p.Asn34Lys) variant details
- p.Asn34Lys
- rs2057078142
- gnomAD X-124025890-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.731
- CADD 29.10
- Population evidence available
- Structural context available
- Literature evidence available