L25P (p.Leu25Pro) variant of PSTPIP1 (O43586)
L25P (p.Leu25Pro) 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 0.54 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L25P (p.Leu25Pro) variant details
- p.Leu25Pro
- rs2076088849
- ClinGen CA393518208
- ClinVar RCV003611265
- TOPMed rs2076088849
- Uncertain significance
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- MetaLR 0.19
- MetaSVM -0.69
- CADD 28.40
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Pyogenic arthritis-pyoderma gangrenosum-acne syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0951