L29P (p.Leu29Pro) variant of PSTPIP1 (O43586)
L29P (p.Leu29Pro) 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.
L29P (p.Leu29Pro) variant details
- p.Leu29Pro
- rs1375790630
- ClinGen CA393518230
- ClinVar RCV002008860
- gnomAD rs1375790630
- Uncertain significance
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- MetaLR 0.15
- MetaSVM -0.81
- CADD 29.00
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Pyogenic arthritis-pyoderma gangrenosum-acne syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Middle Eastern population (allele frequency 0.0032)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.176