P3S (p.Pro3Ser) variant of PSTPIP1 (O43586)
P3S (p.Pro3Ser) in PSTPIP1 (O43586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P3S (p.Pro3Ser) variant details
- p.Pro3Ser
- rs1057519224
- ClinGen CA16043873
- ClinVar RCV000416193
- ClinVar RCV005055954
- Uncertain significance
- not provided; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.561
- MetaLR 0.06
- MetaSVM -1.01
- CADD 16.20
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (not provided; Pyogenic arthritis-pyoderma gangrenosum-acne syndr)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score 0.0145