P50L (p.Pro50Leu) variant of STAG2 (Cohesin subunit SA-2)
P50L (p.Pro50Leu) in STAG2 (Cohesin subunit SA-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
P50L (p.Pro50Leu) variant details
- p.Pro50Leu
- rs2057315917
- ClinGen CA414272213
- ClinVar RCV003439755
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.05
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.05
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available