P63L (p.Pro63Leu) variant of STAG2 (Cohesin subunit SA-2)
P63L (p.Pro63Leu) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
P63L (p.Pro63Leu) variant details
- p.Pro63Leu
- TOPMed rs2057317187
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.19
- CADD 25.20
- PolyPhen-2 0.97
- SIFT 0.04
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available