F16L (p.Phe16Leu) variant of PSTPIP1 (O43586)
F16L (p.Phe16Leu) in PSTPIP1 (O43586) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Autoinflammatory syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
F16L (p.Phe16Leu) variant details
- p.Phe16Leu
- rs2152678710
- ClinGen CA393518147
- ClinVar RCV002264496
- Ensembl rs2152678710
- Uncertain significance
- Autoinflammatory syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- MetaLR 0.11
- MetaSVM -1.04
- CADD 22.30
- PolyPhen-2 0.19
- SIFT 0.07
- ClinVar: Uncertain significance (Autoinflammatory syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- PSTPIP1 SH3 domain domainome 1.0: score -0.0924