E23K (p.Glu23Lys) variant of PSTPIP1 (O43586)
E23K (p.Glu23Lys) in PSTPIP1 (O43586) is a missense change. Clinical records from ClinVar 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 0.64 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E23K (p.Glu23Lys) variant details
- p.Glu23Lys
- cosmic curated COSV10957
- gnomAD rs1246839429
- Uncertain significance
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.643
- MetaLR 0.26
- MetaSVM -0.66
- CADD 28.30
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (Pyogenic arthritis-pyoderma gangrenosum-acne syndrome)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.718