S20W (p.Ser20Trp) variant of FOXP1 (Forkhead box protein P1)
S20W (p.Ser20Trp) in FOXP1 (Forkhead box protein P1) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes population frequency data and structural context.
S20W (p.Ser20Trp) variant details
- p.Ser20Trp
- TOPMed rs1348187295
- gnomAD rs1348187295
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.785
- CADD 29.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available