R14K (p.Arg14Lys) variant of PSTPIP1 (O43586)
R14K (p.Arg14Lys) 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 0.48 / 1. The record also includes population frequency data, experimental measurements, and structural context.
R14K (p.Arg14Lys) variant details
- p.Arg14Lys
- rs2076087921
- ClinGen CA393518133
- ClinVar RCV002299624
- TOPMed rs2076087921
- Uncertain significance
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.479
- MetaLR 0.01
- MetaSVM -0.94
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Uncertain significance (Pyogenic arthritis-pyoderma gangrenosum-acne syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.132