T17I (p.Thr17Ile) variant of PSTPIP1 (O43586)
T17I (p.Thr17Ile) 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 0.32 / 1. The record also includes population frequency data, experimental measurements, and structural context.
T17I (p.Thr17Ile) variant details
- p.Thr17Ile
- rs1235260030
- ClinGen CA393518158
- ClinVar RCV000824000
- gnomAD rs1235260030
- Uncertain significance
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- MetaLR 0.09
- MetaSVM -1.06
- CADD 19.00
- PolyPhen-2 0.21
- SIFT 0.30
- 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 2.5e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.324