I30I (p.Ile30Ile) variant of STAG2 (Cohesin subunit SA-2)
I30I (p.Ile30Ile) in STAG2 (Cohesin subunit SA-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
I30I (p.Ile30Ile) variant details
- p.Ile30Ile
- rs1255264404
- gnomAD X-124025885-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.13
- CADD 6.95
- Most common in the East Asian population (allele frequency 3.5e-05)
- Structural context available
- Literature evidence available