S37C (p.Ser37Cys) variant of FOXP1 (Forkhead box protein P1)
S37C (p.Ser37Cys) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
S37C (p.Ser37Cys) variant details
- p.Ser37Cys
- rs1383155725
- ClinGen CA353565109
- ClinVar RCV001816362
- TOPMed rs1383155725
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- CADD 28.20
- PolyPhen-2 0.11
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available