G21E (p.Gly21Glu) variant of PSTPIP1 (O43586)
G21E (p.Gly21Glu) in PSTPIP1 (O43586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Pyogenic arthritis-pyoderma gangrenosum-acne syndrome. The record also includes experimental measurements and structural context.
G21E (p.Gly21Glu) variant details
- p.Gly21Glu
- rs2152678736
- ClinGen CA2573151179
- ClinVar RCV002021579
- Ensembl rs2152678736
- Uncertain significance
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Missense
- ClinVar: Uncertain significance (Pyogenic arthritis-pyoderma gangrenosum-acne syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0471