Q6L (p.Gln6Leu) variant of PSTPIP1 (O43586)
Q6L (p.Gln6Leu) 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 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
Q6L (p.Gln6Leu) variant details
- p.Gln6Leu
- rs2075560082
- ClinGen CA393516140
- ClinVar RCV003006185
- TOPMed rs2075560082
- Uncertain significance
- Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- AlphaMissense 0.10
- MetaLR 0.06
- MetaSVM -0.99
- PolyPhen-2 0.00
- SIFT 0.07
- MutPred 0.44
- ClinVar: Uncertain significance (Pyogenic arthritis-pyoderma gangrenosum-acne syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.822