M39L (p.Met39Leu) variant of PSTPIP1 (O43586)
M39L (p.Met39Leu) in PSTPIP1 (O43586) is a missense change. Clinical records from ClinVar 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.
M39L (p.Met39Leu) variant details
- p.Met39Leu
- TOPMed rs2076089652
- NCI-TCGA Cosmic COSV9914
- cosmic curated COSV99143
- Uncertain significance
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Missense
- ClinVar: Uncertain significance (Pyogenic arthritis-pyoderma gangrenosum-acne syndrome)
- UniProt: Uncertain significance
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -1.03