P64del (p.Pro64del) variant of STAG2 (Cohesin subunit SA-2)
P64del (p.Pro64del) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P64del (p.Pro64del) variant details
- rs2057317074
- gnomAD X-124031023-ACCT-
- Inframe Deletion
- Variant Prioritization Score for Impact Estimate 0.384
- CADD 17.70
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available
- Literature evidence available