C13F (p.Cys13Phe) variant of PSTPIP1 (O43586)
C13F (p.Cys13Phe) 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 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
C13F (p.Cys13Phe) variant details
- p.Cys13Phe
- rs2152678700
- ClinGen CA2573054108
- ClinVar RCV001803666
- Ensembl rs2152678700
- Uncertain significance
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- MetaLR 0.11
- MetaSVM -0.94
- CADD 25.60
- PolyPhen-2 0.17
- SIFT 0.04
- ClinVar: Uncertain significance (Pyogenic arthritis-pyoderma gangrenosum-acne syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.404