K8E (p.Lys8Glu) variant of PSTPIP1 (O43586)
K8E (p.Lys8Glu) 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 0.37 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K8E (p.Lys8Glu) variant details
- p.Lys8Glu
- rs199800583
- ClinGen CA7675645
- ClinVar RCV000805546
- 1000Genomes rs199800583
- Uncertain significance
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- MetaLR 0.12
- MetaSVM -1.02
- CADD 24.00
- PolyPhen-2 0.13
- SIFT 0.59
- ClinVar: Uncertain significance (Pyogenic arthritis-pyoderma gangrenosum-acne syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:ASW population (allele frequency 0.0098)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0965