P67S (p.Pro67Ser) variant of STAG2 (Cohesin subunit SA-2)
P67S (p.Pro67Ser) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
P67S (p.Pro67Ser) variant details
- p.Pro67Ser
- gnomAD X-124031036-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.04
- CADD 15.60
- PolyPhen-2 0.08
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 1.2e-06)
- Structural context available
- Literature evidence available