R28Q (p.Arg28Gln) variant of PSTPIP1 (O43586)
R28Q (p.Arg28Gln) 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 0.55 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R28Q (p.Arg28Gln) variant details
- p.Arg28Gln
- rs750445188
- ClinGen CA7675694
- cosmic curated COSV10726
- ClinVar RCV001931287
- Uncertain significance
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- MetaLR 0.14
- MetaSVM -0.80
- CADD 27.60
- PolyPhen-2 0.71
- SIFT 0.00
- 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 4.9e-05)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.331