A51E (p.Ala51Glu) variant of STAG2 (Cohesin subunit SA-2)
A51E (p.Ala51Glu) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
A51E (p.Ala51Glu) variant details
- p.Ala51Glu
- gnomAD rs1436980550
- Missense
- Variant Prioritization Score for Impact Estimate 0.182
- REVEL 0.05
- CADD 14.40
- PolyPhen-2 0.02
- SIFT 0.33
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available