S16P (p.Ser16Pro) variant of FOXG1 (Forkhead box protein G1)
S16P (p.Ser16Pro) in FOXG1 (Forkhead box protein G1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of FOXG1 disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S16P (p.Ser16Pro) variant details
- p.Ser16Pro
- rs1881773666
- ClinGen CA389474259
- ClinVar RCV003629541
- TOPMed rs1881773666
- Uncertain significance
- FOXG1 disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.18
- CADD 23.30
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (FOXG1 disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: FOXG1 Syndrome. (PMID 38843374)