C13W (p.Cys13Trp) variant of PSTPIP1 (O43586)
C13W (p.Cys13Trp) 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 0.39 / 1. The record also includes experimental measurements and structural context.
C13W (p.Cys13Trp) variant details
- p.Cys13Trp
- rs2076087868
- ClinGen CA393518129
- ClinVar RCV001316545
- Ensembl rs2076087868
- Uncertain significance
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.386
- AlphaMissense 0.69
- MetaLR 0.13
- MetaSVM -0.92
- PolyPhen-2 0.71
- SIFT 0.01
- MutPred 0.67
- 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 -0.404