P8S (p.Pro8Ser) variant of STAG2 (Cohesin subunit SA-2)
P8S (p.Pro8Ser) 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.
P8S (p.Pro8Ser) variant details
- p.Pro8Ser
- gnomAD X-124022649-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.06
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.58
- Most common in the REMAINING population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available