T20M (p.Thr20Met) variant of PSTPIP1 (O43586)
T20M (p.Thr20Met) in PSTPIP1 (O43586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Autoinflammatory syndrome; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T20M (p.Thr20Met) variant details
- p.Thr20Met
- rs553718554
- ClinGen CA7675689
- ClinVar RCV000299645
- ClinVar RCV002262996
- Conflicting interpretations
- Autoinflammatory syndrome; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- MetaLR 0.06
- MetaSVM -1.03
- CADD 24.50
- PolyPhen-2 0.62
- SIFT 0.04
- ClinVar: Conflicting classifications of pathogenicity (Autoinflammatory syndrome; Pyogenic arthritis-pyoderma gangrenos)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:PEL population (allele frequency 0.0059)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.659