K48K (p.Lys48Lys) variant of STAG2 (Cohesin subunit SA-2)
K48K (p.Lys48Lys) in STAG2 (Cohesin subunit SA-2) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
K48K (p.Lys48Lys) variant details
- p.Lys48Lys
- rs927566661
- gnomAD X-124030981-G-A
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.152
- CADD 7.81
- Most common in the Ashkenazi Jewish population (allele frequency 5.3e-05)
- Structural context available
- Literature evidence available