D29A (p.Asp29Ala) variant of STAG2 (Cohesin subunit SA-2)
D29A (p.Asp29Ala) 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.
D29A (p.Asp29Ala) variant details
- p.Asp29Ala
- ExAC rs756567157
- gnomAD rs756567157
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.32
- CADD 24.20
- PolyPhen-2 0.42
- SIFT 0.04
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available