R28W (p.Arg28Trp) variant of PSTPIP1 (O43586)
R28W (p.Arg28Trp) 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 0.51 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R28W (p.Arg28Trp) variant details
- p.Arg28Trp
- rs767330325
- ClinGen CA7675693
- ClinVar RCV000233989
- ClinVar RCV001062059
- Uncertain significance
- not provided; Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- MetaLR 0.13
- MetaSVM -0.82
- CADD 24.80
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; Pyogenic arthritis-pyoderma gangrenosum-acne syndr)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.331