I30T (p.Ile30Thr) variant of STAG2 (Cohesin subunit SA-2)
I30T (p.Ile30Thr) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
I30T (p.Ile30Thr) variant details
- p.Ile30Thr
- TOPMed rs1179730186
- gnomAD rs1179730186
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.11
- CADD 19.60
- PolyPhen-2 0.00
- SIFT 0.45
- Most common in the East Asian population (allele frequency 6.9e-05)
- Structural context available