F11S (p.Phe11Ser) variant of PSTPIP1 (O43586)
F11S (p.Phe11Ser) 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 available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes experimental measurements and structural context.
F11S (p.Phe11Ser) variant details
- p.Phe11Ser
- rs762264110
- ClinGen CA393516196
- ClinVar RCV003613152
- ExAC rs762264110
- Uncertain significance
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.469
- AlphaMissense 0.81
- MetaLR 0.29
- MetaSVM -0.31
- PolyPhen-2 0.99
- SIFT 0.01
- MutPred 0.83
- 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 -0.106