P8T (p.Pro8Thr) variant of STAG2 (Cohesin subunit SA-2)
P8T (p.Pro8Thr) in STAG2 (Cohesin subunit SA-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Mullegama-Klein-Martinez syndrome; Holoprosencephaly 13, X-linked; not provided. The record also includes structural context.
P8T (p.Pro8Thr) variant details
- p.Pro8Thr
- rs2523546164
- ClinGen CA414271443
- ClinVar RCV002576426
- ClinVar RCV004725307
- Conflicting interpretations
- Mullegama-Klein-Martinez syndrome; Holoprosencephaly 13, X-linked; not provided
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Mullegama-Klein-Martinez syndrome; Holoprosencephaly 13, X-linke)
- EBI: Likely benign
- UniProt: Likely benign
- Structural context available