H20N (p.His20Asn) variant of STAG2 (Cohesin subunit SA-2)
H20N (p.His20Asn) 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.
H20N (p.His20Asn) variant details
- p.His20Asn
- gnomAD X-124025853-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.05
- CADD 21.00
- PolyPhen-2 0.03
- SIFT 0.10
- Population evidence available
- Structural context available
- Literature evidence available