E31K (p.Glu31Lys) variant of STAG2 (Cohesin subunit SA-2)
E31K (p.Glu31Lys) in STAG2 (Cohesin subunit SA-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E31K (p.Glu31Lys) variant details
- p.Glu31Lys
- cosmic curated COSV54370
- gnomAD rs1251136516
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- REVEL 0.14
- CADD 22.20
- PolyPhen-2 0.09
- SIFT 0.85
- Most common in the South Asian population (allele frequency 2e-05)
- Structural context available