L14Q (p.Leu14Gln) variant of STAG2 (Cohesin subunit SA-2)
L14Q (p.Leu14Gln) in STAG2 (Cohesin subunit SA-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The record also includes structural context.
L14Q (p.Leu14Gln) variant details
- p.Leu14Gln
- rs2523546383
- ClinGen CA414271502
- ClinVar RCV003658979
- Uncertain significance
- not provided
- Missense
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available