S22L (p.Ser22Leu) variant of STAG2 (Cohesin subunit SA-2)
S22L (p.Ser22Leu) in STAG2 (Cohesin subunit SA-2) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S22L (p.Ser22Leu) variant details
- p.Ser22Leu
- rs2148019067
- gnomAD X-124025854-AT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.561
- CADD 24.60
- Population evidence available
- Structural context available
- Literature evidence available