D29G (p.Asp29Gly) variant of STAG2 (Cohesin subunit SA-2)
D29G (p.Asp29Gly) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
D29G (p.Asp29Gly) variant details
- p.Asp29Gly
- ExAC rs756567157
- gnomAD rs756567157
- Missense
- Variant Prioritization Score for Impact Estimate 0.416
- REVEL 0.32
- CADD 23.60
- PolyPhen-2 0.42
- SIFT 0.06
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available