S22P (p.Ser22Pro) variant of STAG2 (Cohesin subunit SA-2)
S22P (p.Ser22Pro) 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.
S22P (p.Ser22Pro) variant details
- p.Ser22Pro
- gnomAD X-124025859-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.13
- CADD 22.80
- PolyPhen-2 0.26
- SIFT 0.24
- Population evidence available
- Structural context available
- Literature evidence available