H20Y (p.His20Tyr) variant of STAG2 (Cohesin subunit SA-2)
H20Y (p.His20Tyr) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
H20Y (p.His20Tyr) variant details
- p.His20Tyr
- gnomAD X-124025853-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.353
- REVEL 0.12
- CADD 23.40
- PolyPhen-2 0.10
- SIFT 0.03
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available