W12S (p.Trp12Ser) variant of PSTPIP1 (O43586)
W12S (p.Trp12Ser) 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 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
W12S (p.Trp12Ser) variant details
- p.Trp12Ser
- rs2542598691
- ClinGen CA393516209
- ClinVar RCV003612853
- Uncertain significance
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- MetaLR 0.31
- MetaSVM -0.36
- CADD 25.70
- PolyPhen-2 0.37
- SIFT 0.02
- ClinVar: Uncertain significance (Pyogenic arthritis-pyoderma gangrenosum-acne syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.969