M2T (p.Met2Thr) variant of PSTPIP1 (O43586)
M2T (p.Met2Thr) 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 0.30 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M2T (p.Met2Thr) variant details
- p.Met2Thr
- rs541085532
- ClinGen CA7675641
- ClinVar RCV000897721
- ClinVar RCV002264067
- Conflicting interpretations
- Autoinflammatory syndrome; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- MetaLR 0.12
- MetaSVM -0.98
- CADD 22.60
- PolyPhen-2 0.00
- SIFT 0.11
- ClinVar: Conflicting classifications of pathogenicity (Autoinflammatory syndrome; Pyogenic arthritis-pyoderma gangrenos)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:NAXI population (allele frequency 0.071)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.106